Obstructive hydrocephalus treated with endoscopic third ventriculostomy in a patient with Hajdu-Cheney syndrome: case report

Hajdu-Cheney syndrome (HCS) is a rare genetic disorder with autosomal dominant inheritance, although most cases result from de novo mutations. Progressive platybasia and basilar impression (BI) can potentiate obstructive hydrocephalus due to aqueductal stenosis. Limited literature exists on the surgical intervention for hydrocephalus in patients with this condition. The authors present (to their knowledge) the first case of obstructive hydrocephalus due to aqueductal stenosis from BI treated with an endoscopic third ventriculostomy in a patient with the complex anatomy of HCS.