Hirschsprung's disease presenting with diffuse intestinal pneumatosis in a neonate

In the neonate, pneumatosis intestinalis is almost always associated with necrotizing enterocolitis. The manifestation of diffuse intestinal pneumatosis in Hirschsprung's disease has been reported rarely. It may occur as a result of Hirschsprung's disease complicated with enterocolitis. We report a two-day-old female baby born at term with the problems of failure to pass meconium, progressive abdominal distension and bile stained vomiting. There was an early roentgenographic presentation of pneumatosis intestinalis which might have led to a diagnosis of necrotizing enterocolitis. However, the intestinal pneumatosis resolved within 48 hours. After anorectal manometry and contrast enema examination, an ileostomy was performed at the age of 23 days, and multiple biopsies of intestine showed aganglionosis up to the ileum at the level of 85 cm above the ileocecal valve. Unfortunately, the patient developed short bowel syndrome after operation and died suddenly after an accidental choking at the age of three months. This case suggests that Hirschsprung's disease may have an unusual early roentgenographic presentation with diffuse intestinal pneumatosis in the first few days of life. Anorectal manometries and suction biopsies are crucial for further diagnosis.