Case Report
Copyright ©The Author(s) 2019.
World J Gastrointest Surg. Feb 27, 2019; 11(2): 101-111
Published online Feb 27, 2019. doi: 10.4240/wjgs.v11.i2.101
Table 1 Summary of available English literature on previous reports of acquired hypoganglionosis
Ref.DescriptionRelevant findingsPatient outcomeSuggested pathogenesis
Gabbani et al[2], 2017Case report: 30 yr-old autistic man with recurrent obstructive symptoms for 5 yr. Diagnosed with sigmoid volvulus and distension of right colon. Underwent total colectomyDeficient c-kit staining in ICC. Presence of ANNA-1 antibodiesN/AN/A
Taguchi et al[3], 2017Retrospective study: survey of 161 major institutes of paediatric surgery or gastroenterology in Japan from 2001-2010 of all patients with allied disorders of Hirschprung’s disease (ADHD)(1) 355 cases in total; (2) Average of 3.7 cases over 10 yr in centres which diagnosed patients with ADHD; (3) 130 patients had HG (121 congenital, 9 acquired); and (4) Various diagnostic criteria for acquired HG including “ganglion cell decrease in number after some time”, “few ganglion cells”, “normal at birth and symptoms occur after some time” and “no congenital factors”(1) 78% survival rate for congenital HG; and (2) 100% survival rate for acquired HG (endpoint not defined)N/A
Pescatori et al[4], 1986Case report: 22 yr-old man with severe chronic abdominal pain, distension and constipation. Acute gross dilatation of entire colon on barium enema. Underwent total colectomy with ileoanal anastomosis and loop ileostomyDecreased number of ganglion cells throughout the colon with focal degenerative changes(1) Loop ileostomy reversed 2 mo later; and (2) Full continence at 23 mo and two soft bowel motions every 24 hN/A
Taguchi et al[5], 2006Case series: 16 yr-old male, 17 yr-old male, 17 yr-old female and 30 year-old female. All patients had severe constipation from 5-10 yr of age. All patients had acute megacolon and underwent resection of affected bowelDegeneration and decrease in the number of ganglion cells. Increase in the number of glial cells in myenteric plexusClinical improvement in all patients post-operatively(1) Ischaemia; and (2) Viral infection
Do et al[6], 2011Prospective cohort study: 24 adult patients with HG. Age range 40.1 ± 13 yr. Average duration of constipation 7.4 ± 7.6 yr. 3 male patients, 21 female patients(1) 13 patients had Type I HG (focally narrowed transition zone); (2) 11 patients had Type II HG (diffuse dilatation without narrowed segment); (3) Significantly lower numbers of ICC compared with controls; and (4) No genetic mutations related to ganglion migration were foundN/AType I: genetic predisposition, infectious diseases or inflammatory process early in life; Type II: ageing or prolonged laxative use
Han et al[7], 2012Case series: 33 patients with hypoganglionosis or aganglionosis underwent surgery for chronic constipation between 1998-2011(1) All patients were found to have dilated colon proximal to a narrowed transitional zone; and (2) HG shows later symptoms onset and better prognosis than HDAt 3 mo, all patients rated their quality of life as good, improved or very goodVarious mechanisms including Chagas disease, multiple sclerosis, scleroderma, diabetes, amyloidosis, advanced malignancy, Crohn’s disease or as a medication side-effect
Holland-Cunz et al[8], 2006Case report: 3 yr-old girl with acute lymphoblastic leukaemia and generalised VZV infection. Underwent three laparotomies including jejunal resectionGeneralised intestinal aganglionosis with near-complete neuronal lossExperiences intermittent vomiting. Partially dependent on parenteral nutrition. Normal distal small bowel and colonic transit timesDestruction of enteric ganglia by VZV
Besnard et al[9], 2000Case report: Previously-well 13 yr-old boy with EBV pharyngitis and acute abdominal pain and distension. Underwent exploratory laparotomy and appendicectomy(1) Appendix showed aganglionosis and had EBV-infected cells within its wall; and (2) Full-thickness rectal biopsy showed hypoganglionosis and hyperplastic nerve trunksRequired parenteral nutrition for 3 mo. Remained well at 12 moEBV infection
Cho et al[11], 2015Case report: 56 yr-old man with recurrent constipation and distension for 5 yr. Dependent on laxatives and enemas. Underwent subtotal colectomy with end ileostomy for acute abdominal pain and distension(1) Decreased number of mature ganglion cells. Decreased size of ganglions. Hypertrophy of muscularis propria. Reduced staining for c-kit; and (2) Reduced number of ICCImproved bowel habit and quality of life following surgeryIschaemia; inflammation; auto-immune processes; neurotoxin
Wedel et al[13], 2001Retrospective case-control study: colonic specimens inspected from 10 adult females (aged 19-85 yr) who had colectomies for long-standing intractable slow transit constipation.Increased number of glial cells in myenteric plexus. Smaller surface area of ganglia in myenteric and submucosal plexuses. Hypertrophic nerve fibresN/AN/A
Munakata et al[14], (2002)Case series: 5 patients with HG (2 male and 3 female, aged 25-53 yr). All had onset of symptoms after childhood or adolescence. 3 patients underwent colectomy2 patients had acetylcholinesterase-positive nerve fibres in the lamina propria and muscularis mucosaeN/AN/A
Smith et al[15], 1997Case reports: Previously-well 10 year-old female with acute abdominal pain, distension and vomiting. Underwent total colectomy and end ileostomy. 23 yr-old male with a 12-yr history of recurrent abdominal pain an constipation. Underwent subtotal colectomy and ileosigmoid anastomosisBoth patients had anti-human IgG directed against enteric neurons and central nervous system neurons(1) Female patient has had gastric and small bowel transplantation and requires gastrostomy feeds due to oesophageal denervation. Male patient requires parenteral nutrition three times weekly; and (2) No information given regarding bowel habits or long-term survival for either patient.(1) Severe T-cell mediated inflammatory disorder (autoimmune); (2) Circulating IgG antibodies against enteric neurons; and (3) Ganglion cell apoptosis
Faussone-Pellegrini et al[17], 1999Case report: 32 yr-old male with a 1-yr history of constipation and abdominal distension. Underwent total colectomy and formation of end ileostomyDecreased number of ganglion cells (< 2/cm2) and ICC. Hypertrophy of the circular and longitudinal muscular layer of the colon. CD3-positive T-lymphocyte inflammatory infiltrate surrounding neural elements within colonic wall. High titre of circulating ANNA-1 anti-neuronal antibodies was detected (1:6400)Gained 6 kg post-operatively. Experienced small bowel dilatation in the absence of mechanical obstruction(1) Denervation results in structural remodelling (muscle hypertrophy); and (2) Transformation of ICC into smooth muscle cells from a lack of c-kit signalling
Qadir et al[18], 2011Case report: 34 yr-old women with chronic constipation and 2-d history of acute obstipation and sigmoid volvulus on CT. Underwent total colectomy and ileorectal anastomosisHypoganglionosis of the entire colon. Hypertrophied nerve bundles in the muscularis propria“Dramatic improvement” in bowel function and quality of life after one yearN/A
Matsui et al[19], 1987Case report: previously-well 31 yr-old woman with a 5-mo history of severe constipation following a viral infection (suspected rubella). Underwent left hemicolectomyThickened muscularis propria, more pronounced in the inner circular layer. Loss/reduction in the number of ganglion cellsWell at 4-yr follow-upPost-viral phenomenon