Magnetic Resonance Imaging Diagnosis of Osteopetrosis in a Child Presenting with Blindness

Abstract

Osteopetrosis is a rare hereditary bone dysplasia of heterogeneous pathophysiology in which failure of osteoclastic bone resorption leads to increased bone mass, which has poor mechanical properties. Patients present in childhood with complaints of bone pains, failure to thrive and growth retardation. Other clinical findings include severe anemia, hepatosplenomegaly, lymphadenopathy and thrombocytopenia. The dense, extremely brittle bones fracture easily. Involvement of the cranium can lead to optic nerve atrophy with blindness or other cranial nerve defects. The diagnosis is primarily radiographic and may be supported by computed tomography scan. We are reporting a case of a 4-year-old boy who presented with blindness since the age of 6 months and the diagnosis of osteopetrosis was suggested on magnetic resonance imaging.