ArticleBMJ case reports2021
Double check: diagnosis and management of adult Hirschsprung disease.
Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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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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