A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis

Abstract

Patient: Male, 20Final Diagnosis: Rectosigmoid hypoganglionosisSymptoms: Severe abdominal pain • obstipation • vomiting • shortness of breath • palpitationsMedication: —Clinical Procedure: Hartmann’s procedureSpecialty: SurgeryObjective:Congenital defects/diseasesBackground:Intestinal hypoganglionosis is very rare and accounts for 3% to 5% of all classified congenital intestinal innervation disorders. Isolated hypoganglionosis of the colon is a particularly rare form of the disease, and differential diagnosis includes association with Hirschsprung’s disease and chronic intestinal pseudo-obstruction (CIPO) related to visceral myopathies. Most cases are diagnosed at an early age or in childhood with only a few cases reported in adults.Case Report:We report a case of isolated hypoganglionosis of the rectum and sigmoid presenting as an emergency with acute intestinal obstruction in a 20-year-old male patient. A history of chronic constipation was reported since childhood, but this condition had never been investigated. A preoperative CT scan showed a megasigmoid and megarectum. A Hartmann’s procedure was performed. The patient made a slow recovery and was discharged on the 12th postoperative day in good condition. Histology showed features consistent with isolated hypoganglionosis, and a full thickness rectal biopsies taken 2 months later confirmed the diagnosis.Conclusions:Isolated hypoganglionosis in an adult is very rare, and a high index of suspicion is warranted in young patients with a history of chronic constipation to avoid delayed presentation as an emergency.

A case of severe megacolon due to acquired isolated hypoganglionosis after low anterior resection for lower rectal cancer

“…The infectious agents might cause a severe damage to ganglion cells, resulting in their degeneration and death [3]. However, because of its rarity, there has been no consensus on the specific cause of this disease [19][20][21]. One common event in all cases is that the intestine was severely damaged by pathogens or disorders prior to the development of the disease.…”

Atypical Presentation of Acquired Hypoganglionosis in a Patient Taking Clozapine

“…It is thought that clozapine significantly reduces gastrointestinal motility primarily by affecting the peripheral muscarinic anticholinergic activity via the M3 receptors in the gut wall [7]. Clozapine is three times more likely to cause constipation than other antipsychotics [5]. One recent study demonstrated that 82% of patients taking clozapine had dysmotility in at least one region of the GI tract, with more than half of those patients experiencing multiregional dysmotility [18].…”

“…There are approximately 100 reported cases of isolated HG distinct from Hirschsprung's disease in the literature in the last 40 years, and only a few of those cases were in Caucasian adults [ 3 , 11 ]. It is also associated with considerable morbidity and mortality [ 5 , 11 ]. The prevalence of the disease is difficult to quantify because diagnosis is made on histology, which requires examination of full-thickness bowel sections [ 5 ].…”

“…It is also associated with considerable morbidity and mortality [ 5 , 11 ]. The prevalence of the disease is difficult to quantify because diagnosis is made on histology, which requires examination of full-thickness bowel sections [ 5 ]. Immunohistochemistry stains for acetylcholinesterase, S-100, interstitial cells of Cajal, silver, and lactate dehydrogenase are essential in making the diagnosis [ 11 ].…”

“…No medications have yet been associated with development of the disease. Differential diagnosis of acquired hypoganglionosis includes chronic intestinal pseudo-obstruction, rare enteric myopathies (mutations of the ACTG2 gene), Hirschprung's disease, Chagas disease, enteric neuropathies, and Waardenburg-Shah syndrome [5,6].…”