Intermediate Type of Osteopetrosis in a Ten Year Old Boy

Abstract

ABSTRACT Osteopetrosis is a disease characterized by failure of osteoclasts of bone as a consequence bone modeling and remodeling is impaired, characteristically resulting in skeletal fragility despite of increased density, which also cause hematopoietic insufficiency, disturbed tooth eruption, nerve disturbances, syndrome and growth impairment. Human OP is a heterogeneous genetic disorder encompassing different molecular lesions and range of clinical features, which share single pathogenic nexus in the osteoclasts. We present a rare case of osteopetrosis in a 10-year-old boy with a palatal bony and infraorbital inflammatory swellings. The characteristic clinical, radiologic, and laboratory evaluation confirmed the diagnosis of intermediate osteopetrosis.