Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding

Abstract

Osteopetrosis is a heterogeneous group of disorders characterized by abnormal bone sclerosis. As a result, patients often require input regarding various neurological complications. Although autosomal-recessive osteopetrosis has been associated with hydrocephalus, it has not been linked to hindbrain abnormalities. The authors present 3 cases of auto-somal-recessive osteopetrosis in patients who presented with hydrocephalus. In each of these patients, cerebrospinal fluid diversion procedures were required and hindbrain compression developed. To date, only 1 patient has needed craniocervical decompression due to symptomatic brainstem compression.