What is Not true regarding hirschsprung disease is ? and explain in detail?
Ans is 'a' ie Autosomal dominant Hirschprungs ds or Aganglionic megacolon or Congenital megacolon is a congenital disorder d/t absence of ganglion cells in the neural plexus ie both myentric (Aurebach's) and submucosal (Meissner's) plexus of the intestinal wall. There is accompanying hyperophy of the nerve trunks. MC site is rectosigmoid colon.* (or Rectum, more specificaly)* The Clinical picture varies from acute intestinal obstruction in neonates to chronic constipation in later life. One imp feature which distinguishes Hirschprungs disease from other types of constipation is that fecal soiling is not a feature of HD. M: F ratio is 4: I Diagnosis: Barium enema: The initial diagnostic step in a newborn with radiographic evidence of a distal bowel obstruction is a barium enema. In a normal barium enema study, the rectum is wider than the sigmoid colon. In patients with Hirschsprung's disease, this relationship is reversed. Rectal biopsy ? - Diagnosis can be confirmed by full thickness rectal biopsy. Rectal biopsy is the gold standard for the diagnosis of Hirschsprung's disease. The histopathologic features of Hirschsprung's disease are: Absent ganglia, hyperophied nerve trunks, and increased acetylcholinesterase staining Anorectal manometry ? - is a useful screening test in constipated young child or adult who is otherwise fit. Treatment of choice - ' is pull-through procedure in which normally innervated colon is anastomosed to the distal rectum just above the internal sphincter, thus bypassing the contracted aganglionic segment and restoring normal defecation. Option a Most of the cases are sporadic, Familial cases also occur but their inheritance pattern is not clear.