Publication:

Autosomal recessive infantile osteopetrosis: case report with radiological review

Autosomal recessive type of osteopetrosis or infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification. Incidence is estimated around 1/2,00,000 live births. Osteopetrosis has been reported in most ethnic groups, although, as the disease is very rare, it is more frequently seen in ethnic groups where consanguinity is common. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in foetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. Because of rarity of this type of osteopetrosis, we would like to report this case of a female child who presented with cough, fever and anemia at the age of 3 years.