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Loganathan, K. Vipperla, C. Umapathy, M. Hirschsprung disease HD , or congenital intestinal aganglionosis, is characterized by absence of neurons in the distal colon resulting from a lack of migration of neural crest cells to the large intestine during fetal development. A year-old male presented with 1 week of worsening diffuse abdominal pain and distention without any bowel movement.
This was associated with an acute difficulty in voiding urine. He had suffered from constipation since early childhood and was diagnosed with HD on a rectal biopsy about 3 years ago, but failed to follow-up for surgical management. Severe abdominal distention and tenderness at this presentation prompted diagnostic testing with a contrast enhanced computed tomography CT scan. The distal colon and recto-sigmoid were markedly dilated with impacted stool, and measured 11 and 9 cm in diameter, respectively, whereas the proximal colon measured 5 cm Figure 1.
The bladder was massively distended and displaced into the left side of the abdomen, without evidence of hydronephrosis. Renal function tests were within normal range. He underwent an urgent sigmoid loop colostomy to decompress his feces laden colon.
In the post-operative period, he had gradual improvement of his stomal output and regained normal bladder function prior to discharge. He was recommended definitive surgery for repair of his aganglionic colon. CT scan of the abdomen showing massively distended sigmoid colon filled with feces large arrow and causing acute urinary retention with a distended bladder small arrow.
Adult HD is a very rare condition posing a diagnostic and therapeutic challenge. Chronic refractory constipation in childhood and adolescence should be thoroughly investigated to diagnose HD.