Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding.
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.
Al-Tamimi
Yahia Z
YZ
Neurosurgery Department, Leeds General Infirmary, Leeds, United Kingdom. yahia27@hotmail.com
Tyagi
Atul K
AK
Chumas
Paul D
PD
Crimmins
Darach W
DW
D002557:Cerebrospinal Fluid Shunts; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics*; D003388:Cranial Fossa, Posterior / Q000473:pathology*; D019299:Decompression, Surgical; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000175:diagnosis / Q000601:surgery; D008279:Magnetic Resonance Imaging; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D010022:Osteopetrosis / Q000150:complications / Q000235:genetics / Q000473:pathology; D012249:Rhombencephalon / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D013595:Syringomyelia / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D014057:Tomography, X-Ray Computed