Search

A 2 day old baby boy born at term was referred to the neonatal surgical unit with progressive abdominal distension and failure to pass meconium within his first 24 hours. On examination the boy weighed 2.9 kg and the anus was placed in the normal position. Cardiovascular, respiratory, and other system examinations, along with a brief developmental assessment, were normal. The abdomen was grossly distended but there were no features of peritonitis. The baby was haemodynamically stable. Blood results, including full blood count, urea and electrolytes, C reactive protein, and clotting were normal. Radiographs of the abdomen showed equal distribution of grossly dilated bowel loops throughout the abdomen, with no gas in the rectum. A water soluble contrast enema showed contrast passing from distal spastic colon to dilated proximal normal colon in the area of the transitional zone. This was followed by suction rectal biopsy performed on the ward for histopathological evaluation. ### 1. What is the diagnosis and what are the differential diagnoses? #### Short answer Hirschsprung's disease (fig 1⇓). Differential diagnoses include: anorectal malformations, meconium plug syndrome, small left colon syndrome, colonic atresia, meconium ileus, and jejunoileal atresia. Fig 1 Colour enhanced radiograph showing Hirschsprung's …