Neurological Manifestations as Presenting Feature of Osteopetrosis in Children; A Review of 11 Cases

Background: Osteopetrosis is a rare congenital disorder characterized by the malfunction of osteoclast cells resulting in increased bone density and adverse complications such as bone marrow insufficiency, bone fragility, and neurological symptoms subsequent to increased cortical thickness of the skull.Objectives: We studied neurologic manifestation of the disease, the main complaints that resulted in the diagnosis, the management and outcome during the follow up period.Patients and Methods: This study comprised of children having neurological symptoms as their initial presentation of osteopetrosis that were referred to Children Medical Center Hospital in Tehran from June 2001 to 2011.Results: Intracranial hypertension was the first presentation of osteopetrosis in 11 of the children; 7 patients showed signs and symptoms of hydrocephalous, and 4 had pseudotumor cerebri. In addition, visual disturbance was also a common finding. All patients aged 2 or more (5 children) complained of headache, and 2 of the patients (18%) had facial palsy. During the follow-up (2.1 ± 1.9 years), 3 patients (27%) died due to bone marrow insufficiency and sepsis.Conclusion: The diagnosis of osteopetrosis with the aid of neurological presentation is uncommon and neurological complications are usually found during the follow-ups. All of our patients presented with signs and symptoms of intracranial hypertension and the diagnosis of osteopetrosis was established. After a trail of investigations, this observation considers the importance of extensive evaluation of a child with a new onset hydrocephalus to prevent further serious complications.