Pancytopenia Secondary to Adult Osteopetrosis

Osteopetrosis (OP) is a rare genetically metabolic bone disorder caused by severe impairment of osteoclast-mediated bone resorption. It is characterised by extensive sclerosis of the skeleton, fragility fracture, haematopoietic insufficiency, nerve entrapment syndromes, and growth impairment. It is clinically classified into two major types: infantile (autosomal recessive, malignant) and adult (autosomal dominant, benign) OP. The infantile type is usually diagnosed early in life, while adult type is diagnosed in late adolescence or adulthood. Approximately one-half of patients are asymptomatic and the diagnosis is made incidentally. However, some patients might present with one or more complications of OP, and the diagnosis is made during the work-up and evaluation. Here, the authors describe an unusual case of adult type OP presented with pancytopenia.