Infantile Osteopetrosis: A case Report in Yemen

Abstract

Malignant infantile osteopetrosis, is a rare genetic osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hyperostosis - excessive growth of bone, which has a special predilection to involve the medullary portion with relative sparing of the cortices. The clinical presentation varies widely based on the type of osteopetrosis and ranges in severity from asymptomatic to a fatal course. In this paper we report a 3 years old Yemeni male child with infantile osterpetrosis presented with fever, hepatosplenomegaly, and growth retardation.