Tazeen Majeed, Farzana Amjad.
Osteopetrosis: A Case Report.
Biomedica Jan ;18:41-3.

A case of osteopetrosis was recently diagnosed on the basis of clinical, haematological and readiological parameters. This disease being quite rare, is presented and discussed here to share with the experience of others.

Case Report: A 5-year-old boy presented initially at the age of 1-1/2 year with symptoms of progressive pallor, fever, cough and respiratory difficulty. His peripheral blood tests revealed a moderate degree of anemia, thrombocytopenia along with a leucoerythroblastic blood picture. Red cell morphology showed microcyies, oval macrocytes and spherocytcs. His abdominal ultrasound revealed hepatomegaly of 2 cm and splenomegaly of 4 cm. Radiological examination of the entire skeleton confirmed the diagnosis of osteopetrosis. The child received red cell concentrates and his infection was treated. He also received deltacortil tablets. Since then he has been on blood transfusions and symptomatic treatment for various complaints. On Examination: The child showed a prominent skull hydrocephalic and a protuberant abdomen. The eyes showed pendular nystagmus. The teeth were carious. The child responded to stimuli.

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