ABSTRACT
Intestinal neuronal dysplasia (IND) is a disorder of abnormal intestinal innervation resulting in dysfunctional colonic motility. IND shares clinical features with Hirschsprung's disease but differentiated by histological findings such as hyperplasia of submucosal and myenteric plexuses, giant ganglia, ectopic ganglion cell and increased acetylcholinesterase activity in lamina propria. Although IND may exist as an isolated condition, more commonly, it occurs in association with Hirschsprung's disease. We report a case of twins affected with IND. Both children manifested with delayed passage of meconium and severe abdominal distention after birth. Barium enema in both patients showed microcolon. They underwent emergency ileostomy under the impression of total aganglionosis. But surgical biopsy specimens showed hyperganglionosis in submucosa with formation of giant ganglia. Both neonates suffers from several episodes of peudo-obstruction after the repair operation of colostomy.
Subject(s)
Child , Humans , Infant, Newborn , Acetylcholinesterase , Barium , Biopsy , Colon , Colostomy , Emergencies , Enema , Ganglia , Ganglion Cysts , Hirschsprung Disease , Hyperplasia , Ileostomy , Meconium , Mucous Membrane , Myenteric Plexus , Neurons , Parturition , TwinsABSTRACT
Nonsyndromic intrahepatic bile duct paucity is known to be associated with several kinds of etiology such as infection, chromosomal anomaly, metabolic disease and idiopathic. We report a rare case of intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion.