Osteopetrosis: A rare case

Abstract

Osteopetrosis is a rare inherited metabolic bone disease characterized by failure of osteoclasts to resorb bone leading to impairment of bone modeling and remodeling. The defect in bone turnover results in skeletal fragility despite increased bone mass, hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth failure. It has two major clinical forms: an autosomal dominant benign type or an autosomal recessive malignant type. The recessive form is usually fatal whereas the dominant type is more compatible with life. A rare autosomal recessive (intermediate form) is more prevalent and has less severe presentation. A 12-year-old boy presented with short stature, bilateral progressive vision loss, and backache. X-ray of nondominant hand for bone age estimation showed bone in bone formation. Followed which skeletal survey was done which showed characteristic radiological findings suggestive of osteopetrosis. Osteopetrosis is a rare disease transmitted by autosomal dominant or recessive inheritance having variable penetrance. We report here intermediate form of osteopetrosis. Although the genetic test is used to differentiate between the subtypes, diagnosis is mainly radiological.