Hirschsprung Disease Associated With X-linked Hydrocephalus in an Infant

Abstract

The patient was a 2-month-old boy who suffered from prenatally diagnosed hydrocephalus. He had undergone ventriculoperitoneal shunting and had been genetically diagnosed as having X-linked hydrocephalus (XLH) immediately after birth. During the neonatal period, he did not vomit nor was constipated, although he showed abdominal distension. Therefore, Hirschsprung disease (HD) was not considered at that time. At the age of 80 days, he suddenly stopped breathing during feeding at home, and he was then readmitted to our hospital. He was resuscitated and he presented with severe abdominal distention. HD was highly suspected from the findings of barium enema and rectal mucosal biopsy. Ventriculoatrial shunting and sigmoid colostomy were performed and HD was confirmed by full-thickness rectal biopsy at the age of 101 days, followed by corrective surgery (Duhamel procedure) at the age of 7 months. The postoperative course was uneventful. HD is rarely associated with XLH. Since the diagnosis of HD tends to be later than usual in XLH infants including our patient, early and more aggressive examination for HD is recommended for XLH patients.