A Case of Congenital Hydrocephalus and Hirschsprung’s Disease With a Mutation of L1CAM

Abstract

We report the case of a male infant in whom fetal hydrocephalus and abdominal distention were detected. The infant was diagnosed as having X-linked hydrocephalus (XLH) on the basis of gender, physical findings and a mutation of L1CAM. Ventriculoperitoneal shunting for congenital hydrocephalus was performed. Abdominal distention was becoming worse, so we suspected Hirschsprung’s disease (HD) as a complication with L1CAM mutation. On the basis of enema examination, anorectal pressure study and rectal biopsy findings, the patient was diagnosed as having HD. The abdominal symptoms were improved by the Soave pull-through method. L1CAM mutations cause several disorders such as hydrocephalus, and some cases complicated by HD have been reported in the literature. The possibility of HD should be a concern when we examine congenital hydrocephalus patients with abdominal distention or obstinate constipation.