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Hirschsprung’s disease
94%
298/318
Ileocecal intussusception
2%
5/318
Meckel’s diverticulum
1%
4/318
Juvenile polyposis syndrome
0%
1/318
Volvulus of the sigmoid colon
0/318
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The infant in this scenario has congenital Hirschsprung’s disease, caused by an absence of ganglionic cells (Meissner’s and Auerbach’s plexus) due to failed migration of neural crest cells to afflicted areas of the colon. Hirschsprung's disease can range in severity depending on how much of the colon is affected. Severe congenital Hirschsprung’s disease presents with bilious vomiting, abdominal distention, and failure to pass meconium. More mild versions of the disease can present years after birth with persistent constipation and abdominal distention. Rectal biopsy showing an absence of ganglionic cells in the submucosa of the affected colon is necessary for diagnosis. Kessmann et al. review the prognosis of Hirschsprung's. About one third of patients develop Hirschsprung's-associated enterocolitis, a significant cause of mortality. Patients must be monitored for enterocolitis for years after surgical treatment of disease. Kenny et al. review Hirschsprung’s disease, treatment options, and long term outcomes. The disease is characterized by the absence of the enteric nervous system in a variable portion of the distal gut. Most patients will live normally following surgical treatment. Illustration A shows aberrant acetylcholine esterase (AChE)-positive fibres (brown) in the lamina propria in a patient with Hirschsprung's disease. Increased AChE expression is associated with the hypertrophied extrinsic nerve fibres of the aganglionic segment in Hirschsprung's. Incorrect answers: Answer 2: Ileocecal intussusception involves ‘telescoping’ of the distal ileum into the cecum. Patients present with ‘currant jelly’ stools. Answer 3: Patient with Meckel’s diverticulum present with melena, abdominal pain, intussusception, volvulus, or obstruction. Answer 4: Juvenile polyposis syndrome involves multiple juvenile polyps in the GI tract. Answer 5: Volvulus of the sigmoid colon is the twisting of the sigmoid colon around its mesenteric root. The condition is usually found in elderly patients.
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