Acquired segmental colonic hypoganglionosis in an adult Caucasian male: A case report

Table 1 Summary of available English literature on previous reports of acquired hypoganglionosis

Ref.	Description	Relevant findings	Patient outcome	Suggested pathogenesis
Gabbani et al[2], 2017	Case report: 30 yr-old autistic man with recurrent obstructive symptoms for 5 yr. Diagnosed with sigmoid volvulus and distension of right colon. Underwent total colectomy	Deficient c-kit staining in ICC. Presence of ANNA-1 antibodies	N/A	N/A
Taguchi et al[3], 2017	Retrospective 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], 1986	Case 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 ileostomy	Decreased 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 h	N/A
Taguchi et al[5], 2006	Case 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 bowel	Degeneration and decrease in the number of ganglion cells. Increase in the number of glial cells in myenteric plexus	Clinical improvement in all patients post-operatively	(1) Ischaemia; and (2) Viral infection
Do et al[6], 2011	Prospective 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 found	N/A	Type I: genetic predisposition, infectious diseases or inflammatory process early in life; Type II: ageing or prolonged laxative use
Han et al[7], 2012	Case 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 HD	At 3 mo, all patients rated their quality of life as good, improved or very good	Various 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], 2006	Case report: 3 yr-old girl with acute lymphoblastic leukaemia and generalised VZV infection. Underwent three laparotomies including jejunal resection	Generalised intestinal aganglionosis with near-complete neuronal loss	Experiences intermittent vomiting. Partially dependent on parenteral nutrition. Normal distal small bowel and colonic transit times	Destruction of enteric ganglia by VZV
Besnard et al[9], 2000	Case 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 trunks	Required parenteral nutrition for 3 mo. Remained well at 12 mo	EBV infection
Cho et al[11], 2015	Case 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 ICC	Improved bowel habit and quality of life following surgery	Ischaemia; inflammation; auto-immune processes; neurotoxin
Wedel et al[13], 2001	Retrospective 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 fibres	N/A	N/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 colectomy	2 patients had acetylcholinesterase-positive nerve fibres in the lamina propria and muscularis mucosae	N/A	N/A
Smith et al[15], 1997	Case 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 anastomosis	Both 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], 1999	Case report: 32 yr-old male with a 1-yr history of constipation and abdominal distension. Underwent total colectomy and formation of end ileostomy	Decreased 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], 2011	Case 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 anastomosis	Hypoganglionosis of the entire colon. Hypertrophied nerve bundles in the muscularis propria	“Dramatic improvement” in bowel function and quality of life after one year	N/A
Matsui et al[19], 1987	Case report: previously-well 31 yr-old woman with a 5-mo history of severe constipation following a viral infection (suspected rubella). Underwent left hemicolectomy	Thickened muscularis propria, more pronounced in the inner circular layer. Loss/reduction in the number of ganglion cells	Well at 4-yr follow-up	Post-viral phenomenon

EB: Epstein-Barr virus; VZV: Varicella-zoster virus; ANNA-1: Anti-neuronal nuclear antibodie; ICC: Interstitial cells of Cajal; HG: Hypoganglionoisis; CT: Computed tomography.