Total abdominal pneumatosis, gastric emphysema, and portal vein gas as an initial presentation of Hirschsprung disease: a case report

Pneumatosis intestinalis can be observed with Hirschsprung Disease associated enterocolitis, however gastric emphysema and portal vein gas have not been previously described as an initial presentation of Hirschsprung Disease. A neonate born at 36 weeks gestation presented with oral intolerance on hospital day 5 and was subsequently found to have gastric emphysema with portal venous gas. An exploratory laparotomy was performed due to abdominal distention and concerns for ischemia. Operative findings included meconium plugs in the distal small bowel and colon but no ischemia consistent with meconium ileus. Due to subsequent inconsistent stool output, contrast enema and rectal suction biopsies were performed on hospital day 30. Both studies confirmed the diagnosis of Hirschsprung Disease. The patient underwent a laparoscopic assisted coloanal pull through procedure on hospital day 46. The patient recovered and was discharged home on postoperative day five. At postoperative follow-up appointments, the patient was passing spontaneous stools daily. Hirschsprung disease must be included in the differential diagnosis of neonates who develop pneumatosis, gastric emphysema, and portal venous gas.