Disabling Osteopetrosis in an Young Lady.

Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months. She had insidious onset and gradually progressive loss of vision and hearing for last two years. Plain x-ray of skull revealed increased radio-opacity of skull bones specially in the base, severe under-pneumatization of frontal and sphenoidal sinuses. Maxillary and ethmoid sinuses were also opaque and under-pneumatised. Bone scintigraphy with technetium-99m methylene diphosphonate showed diffusely increased uptake in whole skull. Bone marrow biopsy revealed a reactive marrow with areas of fibrosis without any evidence of granuloma or malignancy. The case had cranial entrapment neuropathies and severe anaemia due to osteopetrosis. High level of awareness is needed to diagnose the case properly and to help the patient to cope with the disabling features of the disease.