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Byard RW, Langlois NEI, Tiemensma M. Forensic considerations in cases of fatal constipation. Forensic Sci Med Pathol 2025:10.1007/s12024-025-00950-8. [PMID: 39937389 DOI: 10.1007/s12024-025-00950-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/16/2025] [Indexed: 02/13/2025]
Abstract
Constipation is characterized by persistent difficulty in defecating. It is a common disorder in the community particularly affecting the elderly and those with intellectual disabilities and neuropsychiatric disorders. It is also caused by numerous medications including analgesic, antidepressant, antihypertensive and anticholinergic agents. It may be asymptomatic or it may produce abdominal pain/cramps, bloating, nausea and anorexia progressing to urinary incontinence and fecal impaction, or paradoxical diarrhea due to overflow. A wide range of mechanisms associated with constipation may result in death including bowel obstruction, stercoral colitis with ulceration, perforation and peritonitis, respiratory compromise, abdominal compartment syndrome and venous thrombosis with pulmonary thromboembolism. Constipation may exacerbate pre-existing diseases and treatments such as laxative and enemas may be lethal. The autopsy examination of a case with constipation and megacolon should take into account all of the pre-existing conditions, as well as the possibility of underlying disorders such as Hirschprung disease. Review of the decedent's medical and drug history and level of supportive care will be important. Toxicological evaluations may be useful.
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Affiliation(s)
- Roger W Byard
- Forensic Science, Adelaide, SA, Australia.
- Adelaide School of Biomedicine, The University of Adelaide, Level 2, Room N237, Helen Mayo North, Frome Road, Adelaide, SA, 5005, Australia.
| | - Neil E I Langlois
- Forensic Science, Adelaide, SA, Australia
- Adelaide School of Biomedicine, The University of Adelaide, Level 2, Room N237, Helen Mayo North, Frome Road, Adelaide, SA, 5005, Australia
| | - Marianne Tiemensma
- Forensic Science, Adelaide, SA, Australia
- College of Medicine and Public Health, Flinders University, Adelaide, SA, Australia
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2
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Miyano G, Suzuki T, Masuda R, Ito M, Iida H, Kaneko K, Abe E, Ikegami M, Nikai K, Ishii J, Lane GJ, Yamataka A, Okazaki T. Questioning the Correlation Between Incidence of Hirschsprung Disease and Indications for Rectal Biopsy. J Laparoendosc Adv Surg Tech A 2024; 34:1031-1034. [PMID: 39180427 DOI: 10.1089/lap.2023.0534] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 08/26/2024] Open
Abstract
Aim: To review the indications for rectal mucosal/submucosal biopsy (RMSBx) used for diagnosing Hirschsprung's disease (HD) in pediatric patients. Methods: The medical records of all children between 1 and 15 years old assessed for chronic constipation between 2012 and 2022 were reviewed. Until the end of 2018, enema usage (E+) was a major indication for RMSBx. In 2019, laxative use for 3 months irrespective of enema use was added as an indication (L+). To determine the relevance of enema usage, L+ was subdivided by enema usage into (L+E+) and (L+E-) groups. The effect of changing the indications for RMSBx on the incidence of HD was investigated. Results: Of 562 eligible subjects, E+ = 410, L+ = 152; demographics are similar. RMSBx rate in E+ (E+RMSBx) was 36/410 (8.8%) and in L+ (L+RMSBx) was 42/152 (27.6%;) (P < .05). For L+RMSBx, 15/42 were L+E+ and 27/42 were L+E-. HD incidence in E+RMSBx was 8/36 (22.2%; E+HD) and in L+RMSBx was 13/42 (31.0%; L+HD) (p = ns). In L+RMSBx, HD incidence in L+E+ was 5/15 (33.3%; L+E+HD) and in L+E- was 8/27 (29.6%; L+E-HD) (P = ns). Differences in daily bowel motion frequency 6 months postoperatively were not statistically significant; E+HD (1.75/d) versus L+HD (2.03/d) and L+E+HD (1.60/day) versus L+E-HD (2.31/day). Unassisted voluntary defecation was confirmed 12 months postoperatively in 7/8 (87.5%) E+HD, 11/13 (84.6%) L+HD, 4/5 (80.0%) L+E+HD, and 7/8 (87.5%) L-E-HD; differences were not significant. Laxatives were still required in 2/8 (25.0%) E+HD, 3/13 (23.1%) L+HD, in 1/5 (20.0%) in L+E+HD, and 2/8 (25.0%) L+E-HD; differences were not significant. Conclusion: Incidence of HD was higher in L+HD, but not significantly different suggesting that indications for RMSBx have potential to influence incidence of HD and hint that the incidence of HD could actually be higher. Further assessment of additional indications is warranted to diagnose HD with greater accuracy.
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Affiliation(s)
- Go Miyano
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Takamasa Suzuki
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Risa Masuda
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Masaki Ito
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Hisae Iida
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Kotaro Kaneko
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Eri Abe
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Michiaki Ikegami
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Koki Nikai
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Junya Ishii
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
| | - Geoffrey J Lane
- Pediatric General & Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan
| | - Atsuyuki Yamataka
- Pediatric General & Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan
| | - Tadaharu Okazaki
- Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan
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Joseph T, Jean Paul A, Francis A, Joseph O. Suspicion diagnostic of Hirschsprung's disease in an adult intraoperatively: A case report. Trauma Case Rep 2024; 53:101088. [PMID: 39183808 PMCID: PMC11342209 DOI: 10.1016/j.tcr.2024.101088] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/28/2024] [Indexed: 08/27/2024] Open
Abstract
Background Hirschsprung disease, a developmental disorder affecting the neuronal ganglion cells in distal colon, is the leading cause of intestinal obstruction in newborns, predominantly males, although the diagnosis can be made lately in rare cases. We describe an adult Hirschsprung disease case found intraoperatively. Case description He is a 20-year-old male patient with past medical history of epilepsy, psychomotor delay and recently a perineal perforating injury, admitted in the emergency room with initial diagnosis of peritonitis by perforated viscus with Frankel grad B spinal cord injury. Among his initial signs and symptoms were abdominal distension, rebound tenderness, decreased bowel sounds and diffuse pain. Laboratory tests revealed increased Hb, decreased white cells count and increased creatinine level. Initial management included: fluid resuscitation, analgesics, antibiotics and laxatives. After becoming hemodynamically unstable, the patient was introduced to the operating room where a highly dilated rectum with areas of necrosis at the base was discovered after access to the abdominal cavity. While doing the intervention, the patient experienced 3 cardiac arrests following by successful ressucitation and blood transfusion; leading to the decision to delay the definitive closure using the Bottega technique. The surgical course was unfavorable as the patient died around 4 hour post-surgery. Conclusion Hirschsprung disease in adult, due to its rarity and its overlapping features with many other conditions that can affect the GI system, can be misdiagnosed or discovered lately. A thorough evaluation by an appropriate specialist is essential for adequate diagnosis and management.
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Tesar M, Sengul I, Mrazkova I, Klymenko D, Sengul D, Martinek L, Pelikan A, Szabova O, Kümmel J, Krhut J, Soares JM. Hirschprung's disease and postpartum trauma leading to fecal incontinence: Why? How? REVISTA DA ASSOCIACAO MEDICA BRASILEIRA (1992) 2024; 70:e20240827. [PMID: 39292079 PMCID: PMC11404993 DOI: 10.1590/1806-9282.20240827] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/10/2024] [Accepted: 06/15/2024] [Indexed: 09/19/2024]
Affiliation(s)
- Milan Tesar
- University Hospital Ostrava, Department of Surgery – Ostrava, Czech Republic
- University of Ostrava, Faculty of Medicine, Department of Surgical Studies – Ostrava, Czech Republic
| | - Ilker Sengul
- Giresun University, Faculty of Medicine, Division of Endocrine Surgery – Giresun, Turkey
- Giresun University, Faculty of Medicine, Department of General Surgery – Giresun, Turkey
| | - Ivana Mrazkova
- University Hospital Ostrava, Department of Surgery – Ostrava, Czech Republic
| | - Dmytro Klymenko
- University Hospital Ostrava, Department of Surgery – Ostrava, Czech Republic
| | - Demet Sengul
- Giresun University, Faculty of Medicine, Department of Pathology – Giresun, Turkey
| | - Lubomir Martinek
- University Hospital Ostrava, Department of Surgery – Ostrava, Czech Republic
- University of Ostrava, Faculty of Medicine, Department of Surgical Studies – Ostrava, Czech Republic
| | - Anton Pelikan
- University Hospital Ostrava, Department of Surgery – Ostrava, Czech Republic
- University of Ostrava, Faculty of Medicine, Department of Surgical Studies – Ostrava, Czech Republic
- Tomas Bata University in Zlín, Faculty of Humanities, Department of Health Care Sciences – Zlín, Czech Republic
| | - Olga Szabova
- University of Ostrava, Faculty of Medicine, Department of Surgical Studies – Ostrava, Czech Republic
- University Hospital Ostrava, Department of Gynaecology – Ostrava, Czech Republic
| | - Jan Kümmel
- University Hospital Ostrava, Department of Gynaecology – Ostrava, Czech Republic
| | - Jan Krhut
- University of Ostrava, Faculty of Medicine, Department of Surgical Studies – Ostrava, Czech Republic
- University Hospital Ostrava, Department of Urology – Ostrava, Czech Republic
| | - José Maria Soares
- Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Departamento de Obstetrícia e Ginecologia, Disciplina de Ginecologia, Laboratório de Ginecologia Estrutural e Molecular – São Paulo (SP), Brazil
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Shah RH, Amin S. Emerging indications for third space endoscopy. Best Pract Res Clin Gastroenterol 2024; 71:101911. [PMID: 39209414 DOI: 10.1016/j.bpg.2024.101911] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/03/2024] [Accepted: 04/03/2024] [Indexed: 09/04/2024]
Abstract
This chapter will explore the recent advancements and innovations in the field of third space endoscopy. The traditional principles of per-oral endoscopic myotomy and endoscopic submucosal dissection have been applied to offer solutions to traditionally difficult to manage problems including esophageal diverticula, post-fundoplication dysphagia, post-sleeve gastrectomy stricture, bariatric procedure and Hirschsprung disease. Typically, these problems were managed surgically with potentially high rates of morbidity and mortality; however, the principles of third space endoscopy offer a safer and less invasive option for management. All of these applications of third space endoscopy are less than a decade old with some emerging in the last 1-2 years. In this chapter, we will explore the pathophysiology of these diseases and how third space endoscopy can offer a solution. We will also review the relevant literature along with the safety and effectiveness of the proposed innovations.
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Affiliation(s)
- Rahil H Shah
- Division of Digestive Health and Liver Diseases, Department of Medicine, University of Miami, Miami, FL, USA
| | - Sunil Amin
- Division of Digestive Health and Liver Diseases, Department of Medicine, University of Miami, Miami, FL, USA.
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6
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Vo J, Hayler R, Tyler A, Verschuer K. Chronic constipation and abdominal distension in a patient with adult Hirschprung's disease and bilateral ovarian teratomas. J Surg Case Rep 2024; 2024:rjae227. [PMID: 38638925 PMCID: PMC11026061 DOI: 10.1093/jscr/rjae227] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2024] [Accepted: 03/22/2024] [Indexed: 04/20/2024] Open
Abstract
Hirschprung's disease is a congenital disorder characterized by aganglionic bowel, usually diagnosed in infancy. Here, we present a unique case of Hirschprung's disease diagnosed in a 29-year-old female with acute on chronic constipation. As part of her work up, a computerized tomography of her abdomen and pelvis revealed large, bilateral dermoid cysts. A diagnostic and therapeutic colonoscopy allowed manual disimpaction and decompression of her bowel, as well as biopsy attainment. Histopathology revealed absence of ganglionic cells on haematoxylin and eosin stain and calretinin immunostaining. This case underscores the diagnostic challenges of Adult Hirschprung's disease and how this impacts patient quality of life, as well as the work up and management of concurrent causes abdominopelvic conditions.
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Affiliation(s)
- Jessica Vo
- Department of Obstetrics and Gynaecology, St George Hospital, Gray St George Hospital, Kogarah, Sydney, NSW, Australia
- Faculty of Women’s Health, St George and Sutherland Clinical School (University of New South Wales), St George Hospital, Gray St, Kogarah, Sydney, NSW, Australia
| | - Raymond Hayler
- Department of Surgery, St George Hospital, Gray St, Kogarah, Sydney, NSW, Australia
- Faculty of Medicine & Health, St George and Sutherland Clinical School (University of New South Wales), St George Hospital, Gray St, Kogarah, Sydney, NSW, Australia
- Faculty of Medicine and Health, Macquarie University, Technology Pl, Macquarie Park, Sydney, NSW, Australia
| | - Alex Tyler
- Department of Surgery, Shoalhaven District Memorial Hospital, Scenic Dr, Nowra, NSW, Australia
| | - Kurt Verschuer
- Department of Surgery, Shoalhaven District Memorial Hospital, Scenic Dr, Nowra, NSW, Australia
- Department of Surgery, Goulburn Base Hospital, 130 Goldsmith St, Goulburn, NSW, Australia
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7
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Pini Prato A, Erculiani M, Novi ML, Caraccia M, Grandi A, Casella S, Giacometti L, Montobbio G, Mottadelli G. Delayed diagnosis in Hirschsprung disease. Pediatr Surg Int 2024; 40:65. [PMID: 38436753 DOI: 10.1007/s00383-024-05657-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 02/11/2024] [Indexed: 03/05/2024]
Abstract
INTRODUCTION Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12 months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay. Our study aims at providing the most relevant features of a series of patients who received a delayed diagnosis of Hirschsprung disease. MATERIALS AND METHODS All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis. RESULTS A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.1:1. Median age at diagnosis was 41 months with a wide variation (range between 17 months and 58 years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay. CONCLUSIONS The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.
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Affiliation(s)
- Alessio Pini Prato
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
| | - M Erculiani
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
| | - M L Novi
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
| | - M Caraccia
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
| | - A Grandi
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
| | - S Casella
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
| | - L Giacometti
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
| | - G Montobbio
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
| | - G Mottadelli
- Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy
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Basilisco G, Marchi M, Coletta M. Chronic intestinal pseudo-obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments. Neurogastroenterol Motil 2024; 36:e14715. [PMID: 37994282 DOI: 10.1111/nmo.14715] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/30/2023] [Revised: 11/06/2023] [Accepted: 11/10/2023] [Indexed: 11/24/2023]
Abstract
Chronic intestinal pseudo-obstruction is a rare and heterogeneous syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine with air/fluid levels in the absence of any mechanical occlusive lesion. Several diseases may be associated with chronic intestinal pseudo-obstruction and in these cases, the prognosis and treatment are related to the underlying disease. Also, in its "primary or idiopathic" form, two subgroups of patients should be determined as they require a more specific therapeutic approach: patients whose chronic intestinal pseudo-obstruction is due to sporadic autoimmune/inflammatory mechanisms and patients whose neuromuscular changes are genetically determined. In a context of a widely heterogeneous adult population presenting chronic intestinal pseudo-obstruction, this review aims to summarize a practical diagnostic workup for identifying definite subgroups of patients who might benefit from more specific treatments, based on the etiology of their underlying condition.
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Affiliation(s)
- Guido Basilisco
- Gastroenterology and Endoscopic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Margherita Marchi
- Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy
| | - Marina Coletta
- Gastroenterology and Endoscopic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
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Glasgow WR, Lintzeris D, Stockton L, Harris Z. Ultrashort-Segment Hirschsprung's Disease Complicated by Megarectum and Obstructive Uropathy: A Case Report. Cureus 2023; 15:e48851. [PMID: 38106803 PMCID: PMC10722352 DOI: 10.7759/cureus.48851] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/03/2023] [Accepted: 11/13/2023] [Indexed: 12/19/2023] Open
Abstract
Adult Hirschsprung's disease (AHD) is a rare condition characterized by a shortened aganglionic segment in the distal colon or rectum that is diagnosed after the age of 10. Diagnostic challenges stem from its rarity, nonspecific presentation, and often delayed consideration following emergent interventions. This report details the case of a 33-year-old male who presented with chronic constipation and abdominal pain, leading to a severe bowel obstruction attributed to self-reported Hirschsprung's disease (HD). Clinical, radiological, and historical aspects were suggestive of AHD, but definitive diagnostic procedures, including manometry and biopsy, were hindered by the patient's deteriorating condition. Exploratory laparotomy unveiled a secondary small bowel obstruction due to volvulus, necessitating immediate intervention, resulting in the removal of 4000 cc of fecal material. A comprehensive resection involving mid-to-distal transverse colon, left colon, sigmoid colon, and proximal rectum with the creation of Hartman's colostomy was performed due to the patient's worsening clinical status. We present a case of possible ultrashort-segment Hirschsprung's disease (USHD) and sketch a classic presentation of AHD. This endeavor aims to enhance awareness and consideration of AHD and/or USHD within the spectrum of potential diagnoses for chronic constipation when relevant and demonstrate the effectiveness of surgical intervention in this population.
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Affiliation(s)
- Wyatt R Glasgow
- General Surgery, Campbell University School of Osteopathic Medicine, Lillington, USA
- General Surgery, University of North Carolina, Chapel Hill, USA
| | | | - Leon Stockton
- General Surgery, University of North Carolina, Chapel Hill, USA
| | - Zvi Harris
- General Surgery, Campbell University School of Osteopathic Medicine, Lillington, USA
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10
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Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A. Hirschsprung disease. Nat Rev Dis Primers 2023; 9:54. [PMID: 37828049 DOI: 10.1038/s41572-023-00465-y] [Citation(s) in RCA: 25] [Impact Index Per Article: 12.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 09/12/2023] [Indexed: 10/14/2023]
Abstract
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.
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Affiliation(s)
- Louise Montalva
- Department of Paediatric Surgery, Robert-Debré Children's University Hospital, Paris, France.
- Faculty of Health, Paris-Cité University, Paris, France.
- NeuroDiderot, INSERM UMR1141, Paris, France.
| | - Lily S Cheng
- Division of Paediatric Surgery, Texas Children's Hospital, Houston, TX, USA
- Division of Paediatric Surgery, University of Virginia, Charlottesville, VA, USA
| | - Raj Kapur
- Department of Pathology, Seattle Children's Hospital, Seattle, WA, USA
| | - Jacob C Langer
- Division of Paediatric Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada
| | - Dominique Berrebi
- Department of Pathology, Robert-Debré and Necker Children's University Hospital, Paris, France
| | - Kristiina Kyrklund
- Department of Paediatric Surgery, Helsinki University Central Hospital, Helsinki, Finland
| | - Mikko Pakarinen
- Department of Paediatric Surgery, Helsinki University Central Hospital, Helsinki, Finland
| | - Ivo de Blaauw
- Department of Surgery, Division of Paediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, Netherlands
| | - Arnaud Bonnard
- Department of Paediatric Surgery, Robert-Debré Children's University Hospital, Paris, France
- Faculty of Health, Paris-Cité University, Paris, France
- NeuroDiderot, INSERM UMR1141, Paris, France
| | - Ankush Gosain
- Department of Paediatric Surgery, Children's Hospital Colorado, Aurora, CO, USA.
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11
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Chen Y, Liu X, Chen S. Hirschsprung disease in an adult masquerading as stricturing Crohn's disease: a missed rare co-morbidity. Gastroenterol Rep (Oxf) 2023; 11:goad040. [PMID: 37398929 PMCID: PMC10313419 DOI: 10.1093/gastro/goad040] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/24/2023] [Revised: 05/30/2023] [Accepted: 06/11/2023] [Indexed: 07/04/2023] Open
Affiliation(s)
- Yiqian Chen
- Department of Gastroenterology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China
| | - Xiaowei Liu
- Department of Gastroenterology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China
- National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China
| | - Shuijiao Chen
- Corresponding author. Department of Gastroenterology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China. Tel: +86-731-89753723;
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12
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Slattery SM, Perez IA, Ceccherini I, Chen ML, Kurek KC, Yap KL, Keens TG, Khaytin I, Ballard HA, Sokol EA, Mittal A, Rand CM, Weese-Mayer DE. Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome. Clin Auton Res 2023; 33:231-249. [PMID: 36403185 DOI: 10.1007/s10286-022-00908-8] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/22/2022] [Accepted: 10/31/2022] [Indexed: 11/21/2022]
Abstract
PURPOSE With contemporaneous advances in congenital central hypoventilation syndrome (CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and conservative management to reduce the risk of early morbidity and mortality, the prevalence of identified adolescents and young adults with CCHS and later-onset (LO-) CCHS has increased. Accordingly, there is heightened awareness and need for transitional care of these patients from pediatric medicine into a multidisciplinary adult medical team. Hence, this review summarizes key clinical and management considerations for patients with CCHS and LO-CCHS and emphasizes topics of particular importance for this demographic. METHODS We performed a systematic review of literature on diagnostics, pathophysiology, and clinical management in CCHS and LO-CCHS, and supplemented the review with anecdotal but extensive experiences from large academic pediatric centers with expertise in CCHS. RESULTS We summarized our findings topically for an overview of the medical care in CCHS and LO-CCHS specifically applicable to adolescents and adults. Care topics include genetic and embryologic basis of the disease, clinical presentation, management, variability in autonomic nervous system dysfunction, and clarity regarding transitional care with unique considerations such as living independently, family planning, exposure to anesthesia, and alcohol and drug use. CONCLUSIONS While a lack of experience and evidence exists in the care of adults with CCHS and LO-CCHS, a review of the relevant literature and expert consensus provides guidance for transitional care areas.
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Affiliation(s)
- Susan M Slattery
- Center for Autonomic Medicine in Pediatrics (CAMP), Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Center, 225 E. Chicago Ave, Box #165, Chicago, IL, 60611, USA.
- Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
| | - Iris A Perez
- Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA
- Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, CA, USA
| | - Isabella Ceccherini
- Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy
| | - Maida L Chen
- Division of Pulmonary and Sleep Medicine, Seattle Children's Hospital, Seattle, WA, USA
- Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
| | - Kyle C Kurek
- Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada
| | - Kai Lee Yap
- Molecular Diagnostics Laboratory, Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA
- Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
| | - Thomas G Keens
- Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA
- Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, CA, USA
| | - Ilya Khaytin
- Center for Autonomic Medicine in Pediatrics (CAMP), Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Center, 225 E. Chicago Ave, Box #165, Chicago, IL, 60611, USA
- Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
| | - Heather A Ballard
- Department of Pediatric Anesthesiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA
- Department of Anesthesia, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
| | - Elizabeth A Sokol
- Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
- Division of Hematology/Oncology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA
| | - Angeli Mittal
- Center for Autonomic Medicine in Pediatrics (CAMP), Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Center, 225 E. Chicago Ave, Box #165, Chicago, IL, 60611, USA
| | - Casey M Rand
- Center for Autonomic Medicine in Pediatrics (CAMP), Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Center, 225 E. Chicago Ave, Box #165, Chicago, IL, 60611, USA
| | - Debra E Weese-Mayer
- Center for Autonomic Medicine in Pediatrics (CAMP), Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Center, 225 E. Chicago Ave, Box #165, Chicago, IL, 60611, USA
- Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
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13
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Alhawaj AF. Stem cell-based therapy for hirschsprung disease, do we have the guts to treat? Gene Ther 2022; 29:578-587. [PMID: 34121091 PMCID: PMC9684071 DOI: 10.1038/s41434-021-00268-4] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/23/2020] [Revised: 04/26/2021] [Accepted: 05/27/2021] [Indexed: 01/09/2023]
Abstract
Hirschsprung disease (HSCR) is a congenital anomaly of the colon that results from failure of enteric nervous system formation, leading to a constricted dysfunctional segment of the colon with variable lengths, and necessitating surgical intervention. The underlying pathophysiology includes a defect in neural crest cells migration, proliferation and differentiation, which are partially explained by identified genetic and epigenetic alterations. Despite the high success rate of the curative surgeries, they are associated with significant adverse outcomes such as enterocolitis, fecal soiling, and chronic constipation. In addition, some patients suffer from extensive lethal variants of the disease, all of which justify the need for an alternative cure. During the last 5 years, there has been considerable progress in HSCR stem cell-based therapy research. However, many major issues remain unsolved. This review will provide concise background information on HSCR, outline the future approaches of stem cell-based HSCR therapy, review recent key publications, discuss technical and ethical challenges the field faces prior to clinical translation, and tackle such challenges by proposing solutions and evaluating existing approaches to progress further.
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Affiliation(s)
- Ali Fouad Alhawaj
- Department of Haematology, UCL Cancer Institute, University College London, London, WC1E 6DD, United Kingdom.
- Department of Physiology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
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Did Age at Surgery Influence Outcome in Patients With Hirschsprung Disease? A Nationwide Cohort Study in the Netherlands. J Pediatr Gastroenterol Nutr 2022; 75:431-437. [PMID: 35830738 DOI: 10.1097/mpg.0000000000003550] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/10/2022]
Abstract
OBJECTIVES Hirschsprung disease (HD) requires surgical resection of affected bowel, but the current evidence is inconclusive regarding the optimal age for resection. The aim of this study was to assess whether age at resection of the aganglionic segment is a determinant for surgical outcomes. METHODS A cross-sectional cohort study was done including all consecutive patients with HD between 1957 and 2015, aged 8 years or older (n = 830), who were treated in 1 of the 6 pediatric surgical centers in the Netherlands. Outcome measures were mortality, postoperative complications, stoma rate and redo surgery rate, retrieved from the medical records. Additionally, constipation and fecal incontinence rate in long term were assessed with the Defecation and Continence Questionnaire (DeFeC and P-DeFeC). RESULTS The medical records of 830 patients were reviewed, and 346 of the 619 eligible patients responded to the follow-up questionnaires (56%). There was a small increase in the risk of a permanent stoma [odds ratio (OR) 1.01 (95% confidence interval {CI}: 1.00-1.02); P = 0.019] and a temporary stoma [OR 1.01 (95% CI: 1.00-1.01); P = 0.022] with increasing age at surgery, regardless of the length of the aganglionic segment and operation technique. Both adjusted and unadjusted for operation technique, length of disease, and temporary stoma, age at surgery was not associated with the probability and the severity of constipation and fecal incontinence in long term. CONCLUSIONS In this study, we found no evidence that the age at surgery influences surgical outcomes, thus no optimal timing for surgery for HD could be determined.
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Ludwig K, De Bartolo D, Salerno A, Ingravallo G, Cazzato G, Giacometti C, Dall’Igna P. Congenital anomalies of the tubular gastrointestinal tract. Pathologica 2022; 114:40-54. [PMID: 35212315 PMCID: PMC9040549 DOI: 10.32074/1591-951x-553] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2022] [Accepted: 11/05/2022] [Indexed: 02/08/2023] Open
Abstract
Congenital anomalies of the tubular gastrointestinal tract are an important cause of morbidity not only in infants, but also in children and adults. The gastrointestinal (GI) tract, composed of all three primitive germ layers, develops early during embryogenesis. Two major steps in its development are the formation of the gut tube (giving rise to the foregut, the midgut and the hindgut), and the formation of individual organs with specialized cell types. Formation of an intact and functioning GI tract is under strict control from various molecular pathways. Disruption of any of these crucial mechanisms involved in the cell-fate decision along the dorsoventral, anteroposterior, left-right and radial axes, can lead to numerous congenital anomalies, most of which occur and present in infancy. However, they may run undetected during childhood. Therapy is surgical, which in some cases must be performed urgently, and prognosis depends on early diagnosis and suitable treatment. A precise pathologic macroscopic or microscopic diagnosis is important, not only for the immediate treatment and management of affected individuals, but also for future counselling of the affected individual and their family. This is even more true in cases of multiple anomalies or syndromic patterns. We discuss some of the more frequent or clinically important congenital anomalies of the tubular GI, including atresia's, duplications, intestinal malrotation, Meckel's diverticulum and Hirschsprung's Disease.
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Affiliation(s)
- Katrhin Ludwig
- Department of Pathology, Azienda Ospedale-Università Padova, Padua, Italy
| | - Debora De Bartolo
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Angela Salerno
- Department of Oncology, Anatomic and Histologic Pathology and Cytodiagnostics, Maggiore Hospital, Bologna, Italy
| | - Giuseppe Ingravallo
- Department of Emergencies and Organ Transplantation, Section of Pathology, University of Bari, Bari, Italy
| | - Gerardo Cazzato
- Department of Emergencies and Organ Transplantation, Section of Pathology, University of Bari, Bari, Italy
| | - Cinzia Giacometti
- Department of Services, Pathology Unit, ULSS 6 “Euganea”, Camposampiero, Italy
| | - Patrizia Dall’Igna
- Department of Emergencies and Organ Transplantation, Pediatric Surgery, University of Bari, Bari, Italy
- Correspondence Patrizia Dall’Igna Department of Emergencies and Organ Transplantation, Azienda Ospedaliero-Universitaria Consorziale, Ospedale Pediatrico Giovanni XXIII, via Giovanni Amendola 207, 70126 Bari, Italy E-mail:
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16
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Arbizu R, Freiberg B, Rodriguez L. Lower Gastrointestinal Functional and Motility Disorders in Children. Pediatr Clin North Am 2021; 68:1255-1271. [PMID: 34736588 DOI: 10.1016/j.pcl.2021.07.010] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
Functional and motility gastrointestinal disorders are the most common complaints to the pediatric gastroenterologist. Disorders affecting the small intestine carry a significant morbidity and mortality due to the severe limitation of therapeutic interventions available and the complications associated with such interventions. Congenital colorectal disorders are rare but also carry significant morbidity and poor quality of life plus the social stigma associated with its complications. In this review, we summarize the clinical presentation, diagnostic evaluations, and the therapeutic interventions available for the most common and severe gastrointestinal functional and motility disorders of the small bowel, colon, and anorectum.
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Affiliation(s)
- Ricardo Arbizu
- Section of Pediatric Gastroenterology, Hepatology and Nutrition, Pediatric Gastroenterology and Hepatology, Neurogastroenterology and Motility Center, Yale School of Medicine, Yale University School of Medicine, Yale New Haven Children's Hospital, 333 Cedar Street, LMP 4093, PO Box 208064, New Haven, CT 06520, USA
| | - Ben Freiberg
- Section of Pediatric Gastroenterology, Hepatology and Nutrition, Pediatric Gastroenterology and Hepatology, Neurogastroenterology and Motility Center, Yale School of Medicine, Yale University School of Medicine, Yale New Haven Children's Hospital, 333 Cedar Street, LMP 4093, PO Box 208064, New Haven, CT 06520, USA
| | - Leonel Rodriguez
- Section of Pediatric Gastroenterology, Hepatology and Nutrition, Pediatric Gastroenterology and Hepatology, Neurogastroenterology and Motility Center, Yale School of Medicine, Yale University School of Medicine, Yale New Haven Children's Hospital, 333 Cedar Street, LMP 4093, PO Box 208064, New Haven, CT 06520, USA.
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17
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Wang YJ, Han ZC, Chen L, He YB, Lin Y, Zhou CM. Clinical Efficacy of an Indwelling Transanal Tube for the Prevention of Anastomotic Leakage After Hirschsprung's Disease: A Single Center Experience with Chinese Patients. J Laparoendosc Adv Surg Tech A 2021; 32:342-346. [PMID: 34783258 DOI: 10.1089/lap.2021.0644] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022] Open
Abstract
Background: The aim of this study was to investigate the clinical effectiveness of an indwelling transanal tube for the prevention of anastomotic leakage (AL) after a radical operation for Hirschsprung's disease (HD). Methods: We retrospectively analyzed the clinical data from 158 patients who had undergone laparoscopic-assisted Soave procedures for HD at our hospital from May 2015 to May 2019. Patients were divided into two groups depending upon whether the anal drainage tube was retained or not retained: an indwelling group (group A, n = 86) and a no-indwelling group (group B, n = 72). Results: All 158 children had a successful operation by a laparoscopic technique. There was no significant difference in the duration of the operation, the length of the incision, the amount of bleeding, or the postoperative hospitalization time between the two groups. Compared with the no-indwelling group, maintaining the transanal tube had significant advantages for preventing incidences of AL (P < .05). The 4-year follow-up showed that the incidence of postoperative enterocolitis with the indwelling transanal tube was significantly lower than in the group without the drainage tube (P < .05). Conclusions: The laparoscopic-assisted Soave procedure with an indwelling transanal tube is a safe and feasible method for the treatment of HD in children. This method can not only drain intestinal contents but also reduce the occurrence of AL.
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Affiliation(s)
- Yun-Jin Wang
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, P.R. China
| | - Zhong-Chao Han
- The State Key Laboratory of Experimental Hematology, Institute of Hematology and Hospital of Blood Diseases, Chinese Academy of Medical Sciences and Peking Union of Medical College, Beijing, P.R. China
| | - Liu Chen
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, P.R. China
| | - Yuan-Bin He
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, P.R. China
| | - Yu Lin
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, P.R. China
| | - Chao-Ming Zhou
- Department of Pediatric Surgery, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, P.R. China
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Haikal Z, Setiadi QH, Sunanto S, Hasanah I. Modified Swenson-like pull-through with temporary stump for redo pull-through after failed Transanal Endorectal Pull-through. J Taibah Univ Med Sci 2021; 17:150-154. [PMID: 35140578 PMCID: PMC8801464 DOI: 10.1016/j.jtumed.2021.09.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/02/2021] [Revised: 09/08/2021] [Accepted: 09/14/2021] [Indexed: 11/30/2022] Open
Affiliation(s)
- Zikrul Haikal
- Surgery Department, Faculty of Medicine, Universitas Mataram, Mataram, Indonesia
- Corresponding address: Faculty of Medicine, Universitas Mataram, Jl. Pemuda No. 37 Mataram, 83126, Indonesia.
| | - Qisthinadia H. Setiadi
- Pediatric Surgery Division, Surgery Department, West Nusa Tenggara Province General Hospital, Mataram, Indonesia
| | - Sunanto Sunanto
- Pediatric Surgery Division, Surgery Department, West Nusa Tenggara Province General Hospital, Mataram, Indonesia
| | - Idyatul Hasanah
- Nursing Department, Faculty of Health Sciences, Universitas Nahdlatul Wathan, Mataram, Indonesia
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19
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Chanpong A, Borrelli O, Thapar N. Hirschsprung disease and Paediatric Intestinal Pseudo-obstruction. Best Pract Res Clin Gastroenterol 2021; 56-57:101765. [PMID: 35331399 DOI: 10.1016/j.bpg.2021.101765] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/10/2021] [Revised: 09/13/2021] [Accepted: 09/14/2021] [Indexed: 01/31/2023]
Abstract
Hirschsprung disease (HSCR) and Paediatric Intestinal Pseudo-obstruction (PIPO) comprise two of the most recognized and severe disorders of gastrointestinal (GI) motility. HSCR is a developmental disorder of the enteric nervous system invariably affecting the large intestine, whereas the majority of PIPO conditions represent congenital disorders of one or more components of the neuromusculature and more diffusely affect the GI tract. Histopathology is deemed the gold standard for the diagnosis of HSCR and, arguably, of PIPO, but, other diagnostic modalities such as manometric and genetic studies have seen recent advances that may increase their utility. Especially for PIPO, management is multidisciplinary and best performed in specialist referral centres. Surgery remains the only viable treatment for HSCR and appears essential to optimize and sustain feeding and viability of intestinal function in PIPO patients. Novel therapies such as neural stem cell transplants show promise for the future.
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Affiliation(s)
- Atchariya Chanpong
- Neurogastroenterology & Motility Unit, Gastroenterology Department, Great Ormond Street Hospital for Children, London, WC1N 3JH, United Kingdom; Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla, 90110, Thailand; Stem Cells and Regenerative Medicine, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, United Kingdom
| | - Osvaldo Borrelli
- Neurogastroenterology & Motility Unit, Gastroenterology Department, Great Ormond Street Hospital for Children, London, WC1N 3JH, United Kingdom
| | - Nikhil Thapar
- Stem Cells and Regenerative Medicine, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, United Kingdom; Gastroenterology, Hepatology and Liver Transplant, Queensland Children's Hospital, Brisbane, Queensland, 4101, Australia.
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20
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Kashfi S, Sermeno Camacho C, Castro KL. Urinary Incontinence Secondary to Fecal Impaction in a Patient With Likely Undiagnosed Hirschsprung's Disease. Cureus 2021; 13:e16837. [PMID: 34513426 PMCID: PMC8410229 DOI: 10.7759/cureus.16837] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/02/2021] [Indexed: 11/05/2022] Open
Abstract
Hirschsprung's disease is caused by the failure of migration of neural crest cells to the hindgut, causing a lack of development of ganglion cells in the submucosal and myenteric plexuses of the colonic wall. Hirschsprung's disease most often presents in infants with failure to pass meconium in the first two days of life. We present the case of an eight-year-old male with chronic constipation since birth who presented to the emergency department with signs concerning spinal cord compression. To our knowledge, this is the first of such a case presenting with urinary incontinence.
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Affiliation(s)
- Simon Kashfi
- Internal Medicine, City University of New York (CUNY) School of Medicine, New York, USA
| | | | - Karen L Castro
- Pediatrics, St. Barnabas Hospital Health System, Bronx, USA
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21
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Nakagawa H, Miyata Y. Refractory Constipation in a 53-Year-Old Man. Gastroenterology 2021; 161:429-430. [PMID: 33964268 DOI: 10.1053/j.gastro.2021.05.002] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/07/2021] [Revised: 05/03/2021] [Accepted: 05/04/2021] [Indexed: 12/02/2022]
Affiliation(s)
- Hiroaki Nakagawa
- Division of General Medicine, Aichi Medical University, Nagakute, Japan.
| | - Yasushi Miyata
- Department of Primary Care and Community Health, Aichi Medical University, Nagakute, Japan
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22
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Moynagh N, Rogers AC, Muldoon C, McCormick PH. Double check: diagnosis and management of adult Hirschsprung disease. BMJ Case Rep 2021; 14:14/6/e239532. [PMID: 34162626 DOI: 10.1136/bcr-2020-239532] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
Hirschsprung disease (HD) is a gut motility disorder usually diagnosed acutely in infancy, although variants of HD may present later in life with indolent symptoms. This report highlights the rarity of diagnosing HD and hypoganglionosis in adulthood and the nuances that need consideration for their surgical management. We present a report of a 49-year-old man presenting with chronic constipation. A full thickness rectal biopsy confirmed aganglionosis, and HD in adulthood was diagnosed. He underwent a defunctioning left-sided colostomy to ensure histological confirmation of ganglia in his left colon, and adequate colonic function via the colostomy.This served also as an assessment of the proximal conduit for any future anastomosis. He later underwent ultra-low anterior resection, coloanal anastomosis and loop ileostomy with subsequent reversal. His final histology revealed hypoganglionosis of the resected segment, with normal innervation to the site of the colostomy. He made full recovery with normal bowel movements.
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Affiliation(s)
- Niamh Moynagh
- Department of Surgery, St James Hospital, Dublin, Ireland
| | - Ailin C Rogers
- Department of Surgery, St James Hospital, Dublin, Ireland
| | - Cian Muldoon
- Department of Histopathology, St James Hospital, Dublin, Ireland.,Faculty of Health Sciences, Trinity College Dublin, Dublin, Ireland
| | - Paul H McCormick
- Department of Surgery, St James Hospital, Dublin, Ireland.,Faculty of Health Sciences, Trinity College Dublin, Dublin, Ireland
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23
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Reategui CO, Spears CA, Allred GA. Adults Hirschsprung's disease, a call for awareness. A Case Report and review of the literature. Int J Surg Case Rep 2021; 79:496-502. [PMID: 33757270 PMCID: PMC7889450 DOI: 10.1016/j.ijscr.2021.01.090] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/18/2020] [Revised: 01/23/2021] [Accepted: 01/23/2021] [Indexed: 11/18/2022] Open
Abstract
Hirschsprung's disease (HD) is an uncommon condition in adulthood; the term adult HD denotes diagnosis after the age of ten. Patients suffer from constipation for many years before the diagnosis is established. They have very characteristic radiologic findings; however, the diagnosis is confirmed with full thickness biopsies. We describe the case of a 19-year-old Caucasian female patient from Southeast Missouri with a history of chronic constipation who was referred to the General Surgery Department by her primary care provider (PCP) due to massive colonic and rectal dilation in an abdominal CT scan. After rectal biopsies were performed the diagnosis of Hirschsprung's disease was confirmed. She was referred to a tertiary center where she underwent a colo-anal pull through procedure. She has been doing well for three years. Diagnosis of this condition can be very challenging, hence the need for clinical suspicion, good quality biopsies and inter-specialty communication among PCPs, gastroenterologists, surgeons and pathologists. Surgery aiming to remove or bypass the aganglionic colonic or rectal segment is the standard of care; quality of life can be significantly improved after surgery.
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Affiliation(s)
- Cesar O Reategui
- Department of Surgery, Missouri Delta Medical Center, Sikeston, MO, United States.
| | - Chester A Spears
- Department of Pathology, Missouri Delta Medical Center, Sikeston, MO, United States
| | - Gina A Allred
- Department of Pathology, Missouri Delta Medical Center, Sikeston, MO, United States
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Gasior A, Midrio P, Aminoff D, Stanton M. Ongoing care for the patient with an anorectal malfromation; transitioning to adulthood. Semin Pediatr Surg 2020; 29:150991. [PMID: 33288136 DOI: 10.1016/j.sempedsurg.2020.150991] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/23/2022]
Abstract
Planned health care transition can improve the ability of young adults to manage their own health care to effecively use health services and ultimately maximize life-long functioning and well-being. Transitional care is a purposeful, planned process that addresses the medical, psychosocial and educational needs of adolescents and young adults with chronic physical and medical conditions as they move from child-centered to adult-oriented healthcare systems. Unsuccessful surgical transtion may result in physical and mental health implications for young patients, negative long-term outcomes and suboptimal use of health care resources. Anorectal malformation and Hirschsprung patients are an especially vulnerable patient population with ongoing surgical, physiologic and pyschosocial challenges.
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Affiliation(s)
- Alessandra Gasior
- Pediatric and Adult Colorectal Surgery, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, USA.
| | - Paola Midrio
- Pediatric Surgery, Cà Foncello Hospital, Treviso, Italy
| | - Dalia Aminoff
- Italian Association for Anorectal Malformation, AIMAR, Via Tripolitania, 211, 00199 Rome, Italy
| | - Michael Stanton
- Southampton Children's Hospital, Tremona Road, Southampton, UK
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25
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Rickey J, Robinson CC, Camps JI, Lagares-Garcia JA. Robotic-assisted Soave Procedure in an 18-year-old Man with Adult Short-segment Hirschsprung's Disease. Am Surg 2020. [DOI: 10.1177/000313481307900604] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
Affiliation(s)
- Joshua Rickey
- Department of Surgery Medical University of South Carolina Charleston, South Carolina
| | | | - Juan I. Camps
- Pediatric Surgeons of South Carolina Palmetto Health Columbia, South Carolina
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McRobert CJ, Hill JC, Hay EM, van der Windt DA. Identifying potential moderators of first-line treatment effect in patients with musculoskeletal shoulder pain: a systematic review. EUROPEAN JOURNAL OF PHYSIOTHERAPY 2020. [DOI: 10.1080/21679169.2020.1752304] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
Affiliation(s)
- Cliona J. McRobert
- Research Institute for Primary Care & Health Sciences, Keele University, Keele, UK
- School of Health Sciences, Institute of Clinical Sciences, University of Liverpool, Liverpool, UK
| | - Jonathan C. Hill
- Research Institute for Primary Care & Health Sciences, Keele University, Keele, UK
| | - Elaine M. Hay
- Research Institute for Primary Care & Health Sciences, Keele University, Keele, UK
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Abstract
Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any pediatric hospital. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or signs of intestinal obstruction. A variety of diagnostic tests including contrast enema and anorectal manometry may be used as diagnostic screens, but diagnosis ultimately rests upon histopathological evaluation of a rectal biopsy. For the experienced pathologist, conventional hematoxylin-and-eosin-stained sections often suffice to exclude HSCR or establish the diagnosis. However, ancillary diagnostic tests such as acetylcholinesterase histochemistry or calretinin immunohistochemistry are complementary and extremely helpful in some cases. In this Perspectives article, we review the clinical and pathological features of HSCR, highlight those that are found in most patients, and discuss how to address particularly challenging aspects of the diagnostic workup.
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Affiliation(s)
- Lusine Ambartsumyan
- Department of Gastroenterology, Seattle Children's Hospital and University of Washington, Seattle, Washington
| | - Caitlin Smith
- Department of Pediatric Surgery, Seattle Children's Hospital and University of Washington, Seattle, Washington
| | - Raj P Kapur
- Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington
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Smith C, Ambartsumyan L, Kapur RP. Surgery, Surgical Pathology, and Postoperative Management of Patients With Hirschsprung Disease. Pediatr Dev Pathol 2020; 23:23-39. [PMID: 31747833 DOI: 10.1177/1093526619889436] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Endorectal pullthrough surgery is integral in the treatment of patients with Hirschsprung disease. Several different surgical procedures exist, which share as common goals to excise the aganglionic segment and upstream transition zone and attach ganglionic bowel just proximal to the anal canal. The operation requires collaboration between surgeon and pathologist to localize ganglionic bowel and prevent retention of transition zone. Intraoperative frozen sections are extremely important, first to establish that ganglion cells are present and subsequently to exclude features of transition zone (partial circumferential aganglionosis, myenteric hypoganglionosis, and submucosal nerve hypertrophy) at the proximal surgical (anastomotic) margin. Postoperative histopathological analysis of resection specimens should be tailored to document distal aganglionosis, document the length of the aganglionic segment and its proximity to the anastomotic margin, and confirm that transition zone has been resected completely. Adherence to the recommendations described in this review will reduce the likelihood of transition zone pullthrough and should decrease the incidence of persistent postoperative obstructive symptoms.
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Affiliation(s)
- Caitlin Smith
- Department of Pediatric Surgery, Seattle Children's Hospital and University of Washington, Seattle, Washington
| | - Lusine Ambartsumyan
- Department of Gastroenterology, Seattle Children's Hospital and University of Washington, Seattle, Washington
| | - Raj P Kapur
- Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington
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Rentea RM, Halleran DR, Ahmad H, Maloof E, Wood RJ, Levitt MA. Transanal-only Swenson-like pull-through for late diagnosed Hirschsprung disease. J Surg Case Rep 2019; 2019:rjz341. [PMID: 31857890 PMCID: PMC6911656 DOI: 10.1093/jscr/rjz341] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2019] [Revised: 07/24/2019] [Accepted: 10/19/2019] [Indexed: 11/16/2022] Open
Abstract
Hirschsprung disease (HD) is an obstructive colonic process usually diagnosed in the neonatal period. A small subset of cases are diagnosed late, present with severe constipation without enterocolitis and have low rectosigmoid disease. A transanal-only pull-through is a well-described approach but in the newborn period risks a situation whereby the transition zone is higher than the sigmoid. We present our experience with the unique patient population of older HD patients in whom the transition zone was reliably reachable via a single-stage transanal approach, performed in prone position. Patients between 2 and 6 years of age with a rectal or sigmoid transition zone and minimal proximal colonic dilation can undergo a primary transanal pull-through surgical approach.
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Affiliation(s)
- Rebecca M Rentea
- Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, Columbus, OH 43205, USA.,Department of Pediatric Surgery, Children's Mercy Hospital, Kansas City, MO 64108, USA
| | - Devin R Halleran
- Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, Columbus, OH 43205, USA
| | - Hira Ahmad
- Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, Columbus, OH 43205, USA
| | - Elias Maloof
- Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, Columbus, OH 43205, USA
| | - Richard J Wood
- Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, Columbus, OH 43205, USA
| | - Marc A Levitt
- Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, Columbus, OH 43205, USA
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Adamou H, Amadou Magagi I, Habou O, Adakal O, Aboulaye MB, Robnodji A, James Didier L, Sani R, Abarchi H. Diagnosis and surgical approach of adult Hirschsprung's disease: About two observations and review of the literature. Case series. Ann Med Surg (Lond) 2019; 48:59-64. [PMID: 31719978 PMCID: PMC6838230 DOI: 10.1016/j.amsu.2019.10.017] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2019] [Revised: 10/14/2019] [Accepted: 10/19/2019] [Indexed: 12/13/2022] Open
Abstract
Introduction Hirschsprung's disease (HD) is uncommon in adulthood. In this study, we describe the management of two cases of adult Hirschsprung's disease treated with transanal colonic pull-through procedure followed by a delayed coloanal anastomosis. Patients and methods This was a retrospective (December 2016 to Jun 2019) study included two cases of adult HD with confirmed Hirschsprung disease who underwent surgery at Zinder National hospital, Niger. The registration number is researchregistry 5174. Results These were two patients aged 21 years (male) and 22 years (female) admitted to the emergency department with an acute bowel obstruction. The history finds a delayed passage of meconium at birth with a history of long-standing recurrent constipation since early childhood for the 2 patients. A lateral colostomy was performed urgently in both patients and the barium enema revealed a disparity of the sigmoid colon with corn shaped transition zone. Histologic examination of the biopsy specimen confirmed the diagnosis of HD. Surgery was done according to transanal endorectal pull-through procedure followed by delayed coloanal anastomosis. Patients were regularly followed over a period of 16 months. Constipation was gone, no continence problem was reported and quality of life was rated satisfactory. Conclusion The discovery of Hirschsprung's disease is rare in adulthood. Transanal endorectal pull-through procedure followed by delayed coloanal anastomosis with conventional surgery is a suitable option for the treatment of HD and gives a good result.
More than 90% of cases, diagnosis and treatment of Hirschsprung’s disease are made in the first 5 years of life; as a result, the diagnosis of HD in adulthood is rare. Surgical treatment in adulthood is more laborious because of anatomical changes. Many surgical procedures have been described, the best known of which are Swenson, Duhamel, Soave and Lynn. Modifications of these techniques have been proposed. The goal of surgical treatment is to resect or exclude the aganglionic segment and to lower the healthy colon, normally innervated at the anus. Transanal colonic pull-through procedure followed by a delayed coloanal anastomosis with conventional surgery and manual anastomosis, gives satisfactory results and remains well adapted to the adult Hirschsprung’s disease in context of limited resources.
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Affiliation(s)
- Harissou Adamou
- General and Digestive Surgery - Zinder National Hospital, Faculty of Health Sciences, University of Zinder, Niger
| | - Ibrahim Amadou Magagi
- General and Digestive Surgery - Zinder National Hospital, Faculty of Health Sciences, University of Zinder, Niger
| | - Oumarou Habou
- Pediatric Surgery - Zinder National Hospital, Faculty of Health Sciences, University of Zinder, Niger
| | - Ousseini Adakal
- General and Digestive Surgery - Faculty of Health Sciences, Dan Dicko Dan Koulodo University of Maradi, Niger
| | - Maman Bachir Aboulaye
- General and Digestive Surgery - Faculty of Health Sciences, Dan Dicko Dan Koulodo University of Maradi, Niger
| | - Alliance Robnodji
- General and Digestive Surgery - Zinder National Hospital, Faculty of Health Sciences, University of Zinder, Niger
| | - Lassey James Didier
- General and Digestive Surgery, National Hospital of Niamey, Faculty of Health Sciences, Abdou Moumouni University of Niamey, Niger
| | - Rachid Sani
- General and Digestive Surgery, National Hospital of Niamey, Faculty of Health Sciences, Abdou Moumouni University of Niamey, Niger
| | - Habibou Abarchi
- Pediatric Surgery, National Lamordé Hospital, Faculty of Health Sciences, Abdou Moumouni University of Niamey, Niger
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Zhang M, Ding K. Adult congenital megacolon with acute fecal obstruction and diabetic nephropathy: A case report. Exp Ther Med 2019; 18:2726-2730. [PMID: 31572519 PMCID: PMC6755455 DOI: 10.3892/etm.2019.7852] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2018] [Accepted: 06/20/2019] [Indexed: 01/05/2023] Open
Abstract
Megacolon is a congenital disorder. Adult congenital megacolon (ACM), also known as adult Hirschsprung's disease, is rare and frequently manifests as constipation. ACM is caused by the absence of ganglion cells in the submucosa or myenteric plexus of the bowel. Most patients undergo treatment of megacolon at a young age, but certain patients cannot be treated until they develop bowel obstruction in adulthood. Bowel obstruction in adults always occurs in complex clinical situations and it is frequently combined with comorbidities, including bowel tumors, volvulus, hernias, hypertension or diabetes mellitus. Surgical intervention is always required in such cases. To avoid recurrence, a sufficient amount of bowel should be removed, particularly the aganglionic segment. Furthermore, the patient's general physical condition should be considered pre-operatively by controlling parameters including blood pressure and blood glucose. In the present study, a case of ACM combined with fecal impaction and diabetic nephropathy was presented.
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Affiliation(s)
- Mingyuan Zhang
- Colorectal Surgery Department, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310000, P.R. China
- Department of Gastrointestinal Surgery, Yinzhou Peoples' Hospital, Ningbo, Zhejiang 315000, P.R. China
| | - Kefeng Ding
- Colorectal Surgery Department, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310000, P.R. China
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Abstract
Hirschsprung disease, like most surgically correctable congenital anomalies, is now survivable well into adulthood. Patients are, therefore, presenting later in life with problems that were previously infrequently encountered by colorectal surgeons or gastroenterologists. The goals of our review are to describe the current state of care transition for this patient population, identify the specific needs for these patients, and propose guidelines which could inform a future model of transition from the pediatric to adult setting. This is a review of the current state of care transition and long-term outcomes for patients with Hirschsprung disease. Although these patients report a generally good quality of life, the majority suffer from some degree of lifelong gastrointestinal complication, regardless of the type of operative repair. A more formalized transition of care will provide a guide for pediatric surgeons and patients, alleviate colorectal surgeon and gastroenterologist concerns, and provide better long-term care for these patients.
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Nataraja RM, Ferguson P, King S, Lynch A, Pacilli M. Management of Hirschsprung disease in Australia and New Zealand: a survey of the Australian and New Zealand Association of Paediatric Surgeons (ANZAPS). Pediatr Surg Int 2019; 35:419-423. [PMID: 30607542 DOI: 10.1007/s00383-018-04432-7] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 12/14/2018] [Indexed: 11/24/2022]
Abstract
PURPOSE To define the practice of management for Hirschsprung disease (HD) in Australia and New Zealand. METHODS Online survey of Australian and New Zealand Association of Paediatric Surgeons (ANZAPS) members. RESULTS 56/80 (70%) members from 17 centres responded. DIAGNOSIS 100% perform suction rectal biopsies; 40% perform a contrast enema. HISTOPATHOLOGICAL STAINING H&E (94%), ACHE (70%) and calretinin (75%). SURGERY Primary pull-through (PT) is performed by 88% (100% by < 6/12 months). The Soave-Boley PT is the preferred approach (85%), with laparoscopic assistance (77%) and muscle cuff division (93%). Routine post-operative dilatations are performed by 63% of respondents. If symptoms persist following PT, majority adopt a conservative approach (enemas/laxatives 90%; Botox 74%). If a long-segment is identified at PT, 60% fashion a stoma and delay definitive surgery. If total colonic aganglionosis is identified at PT, 76% fashion a stoma and delay definitive surgery. A dedicated bowel management program is available in 45% of centres with transition to adult services in 29%. CONCLUSIONS A laparoscopic-assisted Soave-Boley PT is the most common technique for recto-sigmoid HD. Differences are noted in both the management of long-segment/total aganglionosis HD and post-operative management/follow-up.
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Affiliation(s)
- Ramesh Mark Nataraja
- Department of Paediatric Surgery, Monash Children's Hospital, Melbourne, Level 5, 246 Clayton Road, Melbourne, VIC, 3168, Australia.,Department of Paediatrics, School of Clinical Sciences at Monash Health, Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia
| | - Peter Ferguson
- Department of Paediatric Surgery, Monash Children's Hospital, Melbourne, Level 5, 246 Clayton Road, Melbourne, VIC, 3168, Australia
| | - Sebastian King
- Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne, VIC, Australia.,Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.,F. Douglas Stephens Surgical Research, Murdoch Children's Research Institute, Melbourne, VIC, Australia.,Department of Gastroenterology and Clinical Nutrition, The Royal Children's Hospital, Melbourne, VIC, Australia
| | - Amiria Lynch
- Department of Paediatric Surgery, Monash Children's Hospital, Melbourne, Level 5, 246 Clayton Road, Melbourne, VIC, 3168, Australia
| | - Maurizio Pacilli
- Department of Paediatric Surgery, Monash Children's Hospital, Melbourne, Level 5, 246 Clayton Road, Melbourne, VIC, 3168, Australia. .,Department of Paediatrics, School of Clinical Sciences at Monash Health, Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia.
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Hypertrophic pyloric stenosis in a preterm infant: a case report. REVISTA MÉDICA DEL HOSPITAL GENERAL DE MÉXICO 2018. [DOI: 10.1016/j.hgmx.2017.02.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/18/2022] Open
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Duhamel operation vs. transanal endorectal pull-through procedure for Hirschsprung disease: A systematic review and meta-analysis. J Pediatr Surg 2018; 53:1710-1715. [PMID: 29137805 DOI: 10.1016/j.jpedsurg.2017.10.047] [Citation(s) in RCA: 23] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/17/2017] [Revised: 09/28/2017] [Accepted: 10/10/2017] [Indexed: 01/30/2023]
Abstract
OBJECTIVE To compare treatment outcomes in children with Hirschsprung's disease who underwent treatment using the Duhamel or TERPT surgical procedures. METHODS Medline, Cochrane, EMBASE, and Google Scholar databases were searched through December 26, 2016. Search strings included Hirschsprung's disease, fecal incontinence, transanal endorectal pull-through, and Duhamel operation. Randomized controlled studies (RCTs) and retrospective studies that compared the treatment of Hirschsprung's disease in with TERPT or Duhamel surgical procedures in neonates, infants, or children were included. RESULTS The study included six studies with a total of 280 patients. The meta-analysis indicated that the Duhamel and TERPT interventions were similar with respect to rate of postoperative fecal incontinence (OR=0.85, 95% CI=0.37 to 1.92, P=0.692) and operation time (difference in means=46.68min, 95% CI=-26.96 to 114.31, P=0.226). The Duhamel procedure was associated with longer postoperative hospital stay (Difference in means=3.14days, 95% CI=1.46 to 4.82, P<.001) and a lower rate of enterocolitis (OR=0.21, 95%=0.07 to 0.68, P=0.009) compared with the TERPT procedure. CONCLUSIONS The study found that Duhamel and TERPT procedures showed similar benefit in treating Hirschsprung's disease, although differences exist with respect to length of postoperative hospital stay and the incidence of enterocolitis. THE TYPE OF STUDY Meta-analysis. LEVEL OF EVIDENCE Level II.
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Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes. Nat Rev Gastroenterol Hepatol 2018; 15:152-167. [PMID: 29300049 DOI: 10.1038/nrgastro.2017.149] [Citation(s) in RCA: 179] [Impact Index Per Article: 25.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel. The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates most aspects of bowel function. When the ENS is missing, there are no neurally mediated propulsive motility patterns, and the bowel remains contracted, causing functional obstruction. Symptoms of Hirschsprung disease include constipation, vomiting, abdominal distension and growth failure. Untreated disease usually causes death in childhood because bloodstream bacterial infections occur in the context of bowel inflammation (enterocolitis) or bowel perforation. Current treatment is surgical resection of the bowel to remove or bypass regions where the ENS is missing, but many children have problems after surgery. Although the anatomy of Hirschsprung disease is simple, many clinical features remain enigmatic, and diagnosis and management remain challenging. For example, the age of presentation and the type of symptoms that occur vary dramatically among patients, even though every affected child has missing neurons in the distal bowel at birth. In this Review, basic science discoveries are linked to clinical manifestations of Hirschsprung disease, including partial penetrance, enterocolitis and genetics. Insights into disease mechanisms that might lead to new prevention, diagnostic and treatment strategies are described.
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The use of stomas in the early management of Hirschsprung disease: Findings of a national, prospective cohort study. J Pediatr Surg 2017; 52:1451-1457. [PMID: 28528714 DOI: 10.1016/j.jpedsurg.2017.05.008] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/14/2016] [Revised: 03/21/2017] [Accepted: 05/08/2017] [Indexed: 12/15/2022]
Abstract
BACKGROUND/PURPOSE Primary pull-through without a stoma has become preferred practice in managing Hirschsprung disease (HD). The aims of this study were to establish stoma rate and identify factors associated with stoma formation in a population-based cohort in the UK and Ireland. METHODS Live-born infants with HD were prospectively identified in all 28 specialist pediatric surgical units in the UK and Ireland between October 2010 to September 2012. Method of colonic decompression was recorded and multivariable logistic regression was used to identify factors associated with stoma formation. RESULTS 305 infants with HD were identified. Rectal washouts were initially used in 86% (263) with a defunctioning stoma formed as the primary management in 13% (39). Ultimately, 36% (111) required a stoma prior to definitive surgery. Compared to infants managed with rectal washouts alone; infants managed with a stoma were more likely to have a transition zone proximal to the splenic flexure, Down (or another) syndrome, and HD diagnosis established more than 28days after presentation. CONCLUSIONS Although rectal washouts are commonly employed, a stoma prior to definitive surgery was required in 36% of infants in a national cohort. Delayed diagnosis, aganglionosis proximal to the splenic flexure and presence of other anomalies are associated with stoma formation. TYPE OF STUDY AND LEVEL OF EVIDENCE Prognosis study (high-quality prospective cohort study with 80% follow-up and all patients enrolled at same time point in disease).
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38
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Bradnock TJ, Knight M, Kenny S, Nair M, Walker GM. Hirschsprung's disease in the UK and Ireland: incidence and anomalies. Arch Dis Child 2017; 102:722-727. [PMID: 28280094 PMCID: PMC5537519 DOI: 10.1136/archdischild-2016-311872] [Citation(s) in RCA: 48] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/24/2016] [Accepted: 02/08/2017] [Indexed: 12/14/2022]
Abstract
OBJECTIVES To describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD). DESIGN Population-based cohort study of all live-born infants with HD born in the UK and Ireland from October 2010 to September 2012. SETTING All 28 paediatric surgical centres in the UK and Ireland. PARTICIPANTS 305 infants presenting before 6 months of age with histologically proven HD. MAIN OUTCOME MEASURES Incidence, clinical characteristics including gestational age, birth weight, gender, associated anomalies; age and clinical features at presentation; and use of rectal washouts or stoma. RESULTS The incidence of HD in the UK and Ireland was 1.8 per 10 000 live births (95% CI 1.5 to 1.9). Male to female ratio was 3.3:1. An associated anomaly was identified in 23% (69), with 15% (47) having a recognisable syndrome. The proportion of infants who presented and were diagnosed in the neonatal period was 91.5% (279) and 83.9% (256), respectively. 23.9% (73) and 44.2% (135) passed meconium within 24 and 48 hours of birth. 81% (246) first presented to a hospital without tertiary paediatric surgical services, necessitating interhospital transfer. Initial colonic decompression was by rectal washouts in 86.2% (263) and by defunctioning stoma in 12.8% (39). Subsequently, 27.4% (72) of infants failed management with rectal washouts and required a delayed stoma, resulting in 36.4% (111) of infants having a stoma. CONCLUSIONS In this population-based cohort, presentation outside the neonatal period was rare. Nearly half of the infants with HD passed meconium within 48 hours of birth and over one third were managed with a stoma.
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Affiliation(s)
- T J Bradnock
- Department of Paediatric Surgery, The Royal Hospital for Children, Glasgow, UK
| | - M Knight
- National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK
| | - S Kenny
- Department of Paediatric Surgery, Alder Hey Children's NHS Foundation Trust, Liverpool, UK
| | - M Nair
- National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK
| | - G M Walker
- Department of Paediatric Surgery, The Royal Hospital for Children, Glasgow, UK
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Cullis PS, Gudlaugsdottir K, Andrews J. A systematic review of the quality of conduct and reporting of systematic reviews and meta-analyses in paediatric surgery. PLoS One 2017; 12:e0175213. [PMID: 28384296 PMCID: PMC5383307 DOI: 10.1371/journal.pone.0175213] [Citation(s) in RCA: 37] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/17/2016] [Accepted: 03/22/2017] [Indexed: 02/06/2023] Open
Abstract
OBJECTIVE Our objective was to evaluate quality of conduct and reporting of published systematic reviews and meta-analyses in paediatric surgery. We also aimed to identify characteristics predictive of review quality. BACKGROUND Systematic reviews summarise evidence by combining sources, but are potentially prone to bias. To counter this, the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) was published to aid in reporting. Similarly, the Assessing the Methodological Quality of Systematic Reviews (AMSTAR) measurement tool was designed to appraise methodology. The paediatric surgical literature has seen an increasing number of reviews over the past decade, but quality has not been evaluated. METHODS Adhering to PRISMA guidelines, we performed a systematic review with a priori design to identify systematic reviews and meta-analyses of interventions in paediatric surgery. From 01/2010 to 06/2016, we searched: MEDLINE, EMBASE, Cochrane, Centre for Reviews and Dissemination, Web of Science, Google Scholar, reference lists and journals. Two reviewers independently selected studies and extracted data. We assessed conduct and reporting using AMSTAR and PRISMA. Scores were calculated as the sum of reported items. We also extracted author, journal and article characteristics, and used them in exploratory analysis to determine which variables predict quality. RESULTS 112 articles fulfilled eligibility criteria (53 systematic reviews; 59 meta-analyses). Overall, 68% AMSTAR and 56.8% PRISMA items were reported adequately. Poorest scores were identified with regards a priori design, inclusion of structured summaries, including the grey literature, citing excluded articles and evaluating bias. 13 reviews were pre-registered and 6 in PRISMA-endorsing journals. The following predicted quality in univariate analysis:, word count, Cochrane review, journal h-index, impact factor, journal endorses PRISMA, PRISMA adherence suggested in author guidance, article mentions PRISMA, review includes comparison of interventions and review registration. The latter three variables were significant in multivariate regression. CONCLUSIONS There are gaps in the conduct and reporting of systematic reviews in paediatric surgery. More endorsement by journals of the PRISMA guideline may improve review quality, and the dissemination of reliable evidence to paediatric clinicians.
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Affiliation(s)
- Paul Stephen Cullis
- Department of Surgical Paediatrics, Royal Hospital for Children, Glasgow, United Kingdom
- School of Medicine, University of Glasgow, Glasgow, United Kingdom
| | - Katrin Gudlaugsdottir
- Department of Surgical Paediatrics, Royal Hospital for Children, Glasgow, United Kingdom
| | - James Andrews
- Department of Surgical Paediatrics, Royal Hospital for Children, Glasgow, United Kingdom
- School of Medicine, University of Glasgow, Glasgow, United Kingdom
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Meinds RJ, van der Doef HPJ, Bodewes FAJA, Timmer A, Trzpis M, Broens PMA. Solitary Rectal Ulcer Syndrome as a Sign of Unrecognized Hirschsprung Disease. J Pediatr 2016; 177:321-321.e1. [PMID: 27402331 DOI: 10.1016/j.jpeds.2016.06.002] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/06/2016] [Accepted: 06/02/2016] [Indexed: 01/08/2023]
Affiliation(s)
- Rob J Meinds
- Division of Pediatric Surgery, Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Hubert P J van der Doef
- Pediatric Gastroenterology and Hepatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Frank A J A Bodewes
- Pediatric Gastroenterology and Hepatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Albertus Timmer
- Department of Pathology and Medical Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Monika Trzpis
- Anorectal Physiology Laboratory, Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Paul M A Broens
- Division of Pediatric Surgery, Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Anorectal Physiology Laboratory, Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
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Nakatake R, Hamada Y, Miki H, Shirai T, Nakamura Y, Hamada H, Ishizaki M, Kon M. A case of Hirschsprung's disease underwent surgery in adulthood. JOURNAL OF PEDIATRIC SURGERY CASE REPORTS 2016. [DOI: 10.1016/j.epsc.2016.07.005] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022] Open
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Chia ST, Chen SCC, Lu CL, Sheu SM, Kuo HC. Epidemiology of Hirschsprung's Disease in Taiwanese Children: A 13-year Nationwide Population-based Study. Pediatr Neonatol 2016; 57:201-6. [PMID: 26541757 DOI: 10.1016/j.pedneo.2015.04.016] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/24/2014] [Revised: 03/13/2015] [Accepted: 04/27/2015] [Indexed: 10/22/2022] Open
Abstract
BACKGROUND Hirschsprung's disease (HD) is an important colon disease in children. The aim of this study is to describe the epidemiological features of HD in Taiwanese children. METHODS We conducted a study from the Taiwan National Health Insurance Research Database and analyzed cases who received surgical intervention between 1998 and 2010 due to HD (International Classification of Diseases, 9(th) Revision, Clinical Modification 751.3) or megacolon (International Classification of Diseases, 9(th) Revision, Clinical Modification 564.7). The incidence, sex ratio, age at the surgical intervention, associated complication, and medical expenditures were analyzed. RESULTS There were a total of 629 HD cases, including 458 boys and 171 girls, with an overall incidence of 2.2 per 10,000 live births. The male-to-female incidence ratio was 2.38. There was no secular trend of incidence across the years. Seventy-two percent of cases received surgical treatment before the age of 1 year. The younger cases had higher operation-related medical expenditures. Those patients with preoperative enterocolitis (EC) had a higher possibility of postoperative EC than those patients without preoperative EC (34.6% vs. 24.3%, p = 0.013). There were 169 (26.9%) HD cases with additional anomalies, the most common being gastrointestinal and circulatory system anomalies. Of these, 12 (1.9%) cases were Down syndrome. CONCLUSION The incidence of HD in Taiwanese children, a majority Chinese population, was one per 4545 live births with a male predominance. Preoperative EC was a significant factor that was associated with postoperative EC. The percentage associated with Down syndrome was relatively low, probably due to a prenatal screening program.
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Affiliation(s)
- Shu-Ti Chia
- Department of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi City, Taiwan; The Institute of Clinical Medicine of National Cheng Kung University, Tainan City, Taiwan
| | - Solomon Chih-Cheng Chen
- Department of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi City, Taiwan; Department of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi City, Taiwan; Department of Pediatrics, School of Medicine, Taipei Medical University, Taipei City, Taiwan
| | - Chin-Li Lu
- Department of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi City, Taiwan; Department of Public Health, College of Medicine, National Cheng Kung University, Tainan City, Taiwan
| | - Shew-Meei Sheu
- Department of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi City, Taiwan
| | - Hsing-Ching Kuo
- Department of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi City, Taiwan.
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Abstract
BACKGROUND How to manage a late diagnosed Hirschsprung's disease (HD) and how to avoid calibre discrepancy? SUBJECTS AND METHODS A retrospective study of all patients diagnosed with HD over 2 years in our hospital from January 2009 to December 2012. Data were analysed for clinical presentations, investigations, surgical procedures and post-operative outcome. RESULTS Fifteen patients, operated by one single surgeon, were included in this study. The mean age was 6 years (2-16 years). Patients had an ultra-short segment type in 4 cases, rectosigmoid type in 9 cases and descending colonic aganglionosis in 2 cases. Rectal wash out was effective in 12 patients. A blowhole transverse colostomy was performed in 2 patients. Twelve patients underwent one single stage endorectal pull-through. Anastomosis incongruence was avoided by a plication procedure never described before. The assessment of post-operative outcomes by the paediatric incontinence and constipation scoring system revealed a normal continence function in all our patients, but 3 patients suffered from soiling secondary to constipation. CONCLUSION One single stage pull-through can be safe and effective in children with late diagnosed HD. Routine rectal washout is a good way to prepare the colon. In some cases, blowhole colostomy can be an option. Anastomosis incongruence is a challenge; we describe a plication procedure to avoid it.
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Affiliation(s)
- Mohamed Ouladsaiad
- Department of Pediatric Surgery, School of Medicine, Mohammed VI University Hospital, Cadi Ayyad University, Marrakesh, Morocco
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Coderch Ciurans C, Brunet Garcia L, López Liñán MJ. [Abdominal mass in an adolescent]. An Pediatr (Barc) 2015; 84:123-4. [PMID: 26055902 DOI: 10.1016/j.anpedi.2015.04.011] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/30/2015] [Revised: 04/10/2015] [Accepted: 04/14/2015] [Indexed: 10/23/2022] Open
Affiliation(s)
- C Coderch Ciurans
- Servicio de Urgencias de Pediatría, Hospital Consorci Sanitari de Terrassa, Terrassa, Barcelona, España.
| | - L Brunet Garcia
- Servicio de Urgencias de Pediatría, Hospital Consorci Sanitari de Terrassa, Terrassa, Barcelona, España
| | - M J López Liñán
- Servicio de Urgencias de Pediatría, Hospital Consorci Sanitari de Terrassa, Terrassa, Barcelona, España
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45
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Biko DM, McQuillan BF, Jesinger RA, Sherman PM, Borg BD, Lichtenberger JP. Imaging of pediatric pathology during the Iraq and Afghanistan conflicts. Pediatr Radiol 2015; 45:439-48. [PMID: 24898394 DOI: 10.1007/s00247-014-3025-x] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/30/2014] [Revised: 04/14/2014] [Accepted: 05/01/2014] [Indexed: 12/28/2022]
Abstract
United States Armed Forces radiologists deployed to Afghanistan and Iraq in modern military conflicts may encounter pediatric patients as a casualty of war or when providing humanitarian assistance to the indigenous population. Pediatric patients account for 4-7% of admissions at U.S. military hospitals during the Iraq and Afghanistan conflicts. It is pertinent for radiologists in the humanitarian care team to be familiar with imaging pediatric trauma patients, the pathology endemic to the local population, and delayed presentations of congenital and developmental disorders to adequately care for these patients. The radiological manifestations of various pediatric disorders seen in the setting of the Iraq and Afghanistan conflicts will be explored.
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Affiliation(s)
- David M Biko
- Department of Radiology, David Grant USAF Medical Center, 101 Bodin Circle, Travis AFB, CA, 94535, USA,
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Han Y, Lin MB, Zhang YJ, Yin L. Total laparoscopic modified Duhamel operation in combination with transanal endoscopic microsurgery. JSLS 2014; 18:128-31. [PMID: 24680156 PMCID: PMC3939328 DOI: 10.4293/108680813x13693422520288] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022] Open
Abstract
INTRODUCTION Laparoscopic-assisted colonic resection has been well described for multiple surgical indications and typically requires an abdominal incision for specimen removal that is associated with most of the postoperative pain. We report the total laparoscopic modified Duhamel operation for megacolon in combination with transanal endoscopic microsurgery for transanal specimen retrieval and anastomosis to avoid the additional abdominal extraction incision. CASE DESCRIPTION Two cases are presented: case 1 was a 15-year-old boy who presented with intermittent abdominal distention, pain, and constipation for 3 years' duration and was diagnosed with Hirschsprung disease, and case 2 was a 60-year-old man who presented with repeated attacks of incomplete intestinal obstruction for 2 years' duration and was diagnosed with adult megacolon. They were treated by the total laparoscopic modified Duhamel operation without an abdominal extraction incision in combination with transanal endoscopic microsurgery. The operations were successfully accomplished without conversion to open surgery. The patients tolerated the procedure well, complained of minimal postoperative pain, and did not require narcotics beyond the day of the operation. No surgical complications occurred. Discharge from the hospital occurred on the ninth postoperative day in case 1 and the 13th postoperative day in case 2. DISCUSSION The total laparoscopic modified Duhamel operation in combination with transanal endoscopic microsurgery is a feasible and minimally invasive technique for idiopathic megacolon and adult megacolon. This advanced surgical technique was developed by combining laparoscopy with the concept of natural orifice transluminal endoscopic surgery.
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Affiliation(s)
- Yi Han
- Department of General Surgery, RuiJin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
| | - Mou-Bin Lin
- Department of General Surgery, RuiJin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
| | - Ya-Jie Zhang
- Department of General Surgery, RuiJin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
| | - Lu Yin
- Department of General Surgery, RuiJin Hospital, Shanghai Jiaotong University School of Medicine, No. 197, Ruijin No. 2 Road, Shanghai, China.
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47
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Vijayvargiya P, Camilleri M. Proximal megacolon in an adult. Clin Gastroenterol Hepatol 2014; 12:e83-4. [PMID: 23811253 DOI: 10.1016/j.cgh.2013.05.041] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/24/2013] [Accepted: 05/24/2013] [Indexed: 02/07/2023]
Affiliation(s)
- Priya Vijayvargiya
- Clinical Enteric Neuroscience Translational and Epidemiological Research, Mayo Clinic, Rochester, Minnesota
| | - Michael Camilleri
- Clinical Enteric Neuroscience Translational and Epidemiological Research, Mayo Clinic, Rochester, Minnesota
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48
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Loganathan P, Vipperla K, Umapathy C, Gajendran M. Acute urinary retention from coprostatic colon: an unusual presentation of 'adult Hirschsprung's disease'. QJM 2014; 107:479-80. [PMID: 24149280 DOI: 10.1093/qjmed/hct209] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/13/2022] Open
Affiliation(s)
| | - K Vipperla
- Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, M2, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USADivision of General Internal Medicine, University of Pittsburgh, Suite 933W, 200 Lothrop Street, Pittsburgh, PA 15213, USA
| | - C Umapathy
- Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, M2, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USADivision of General Internal Medicine, University of Pittsburgh, Suite 933W, 200 Lothrop Street, Pittsburgh, PA 15213, USA
| | - M Gajendran
- Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, M2, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USADivision of General Internal Medicine, University of Pittsburgh, Suite 933W, 200 Lothrop Street, Pittsburgh, PA 15213, USA.
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49
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Factors affecting bilirubin levels during first 48 hours of life in healthy infants. BIOMED RESEARCH INTERNATIONAL 2013; 2013:316430. [PMID: 23841060 PMCID: PMC3690209 DOI: 10.1155/2013/316430] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 04/19/2013] [Revised: 05/18/2013] [Accepted: 05/20/2013] [Indexed: 11/17/2022]
Abstract
OBJECTIVE To investigate the relationship of delivery type, maternal anesthesia, feeding modalities, and first feeding and meconium passage times with early bilirubin levels of healthy infants. METHODS Cord, 24 hours' and 48 hours' total bilirubin levels were measured in 388 study infants. RESULTS Infants born with cesarean section were fed later and more often had mixed feeding. First meconium passage was delayed with general anesthesia. Cord, 24 and 48 hours' bilirubin levels were not correlated with first feeding time, meconium passage time, mode of delivery, existence and type of anesthesia, and feeding modalities. Being in high intermediate risk zone at 72 hours of Bhutani's nomogram was only related to first feeding time and high cord bilirubin level. Late preterm infants were more frequently born with cesarean section and offered supplementary formula. Therefore, first meconium passage times and bilirubin levels were similar in the late preterm and term infants. CONCLUSIONS Type of delivery or anesthesia, late prematurity, feeding modalities, and first meconium passage time were not related to early bilirubin levels in healthy neonates, but delayed first feeding and high cord bilirubin levels were related to be in higher risk zone for later hyperbilirubinemia.
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50
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Krogh C, Gørtz S, Wohlfahrt J, Biggar RJ, Melbye M, Fischer TK. Pre- and perinatal risk factors for pyloric stenosis and their influence on the male predominance. Am J Epidemiol 2012; 176:24-31. [PMID: 22553083 DOI: 10.1093/aje/kwr493] [Citation(s) in RCA: 47] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2022] Open
Abstract
Pyloric stenosis occurs with a nearly 5-fold male predominance. To what extent this is due to environmental factors is unknown. In a cohort of all children born in Denmark, 1977-2008, the authors examined the association between pre- and perinatal exposures and pyloric stenosis and investigated whether these factors modified the male predominance. Information on pre- and perinatal factors and pyloric stenosis was obtained from national registers. Poisson regression models were used to estimate rate ratios. Among 1,925,313 children, 3,174 had surgery for pyloric stenosis. The authors found pyloric stenosis to be significantly associated with male sex, age between 2 and 7 weeks, early study period, being first born, maternal smoking during pregnancy, preterm delivery, small weight for gestational age, cesarean section, and congenital malformations. Among cases, 2,595 were males and 579 were females. Lower male predominance was associated with age at diagnosis outside the peak ages, early study period, no maternal smoking during pregnancy, preterm delivery, and congenital malformations. The authors have previously found a strong familial aggregation of pyloric stenosis indicating a genetic influence. This study shows that environmental factors during and shortly after pregnancy also play a role and that several of these modify the strong male predominance.
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Affiliation(s)
- Camilla Krogh
- Department of Epidemiology Research, Statens Serum Institut, 5 Orestads Boulevard, DK-2300 Copenhagen S, Denmark.
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