Dr. Smriti Jain, J18842, Dr. B Chandra Sekharan, Dr. Sivakami Mohan
A 32 day old male child, 1st born to 3rd degree consanguineous marriage was brought by parents with complaint of one episode of blood stained vomitus. Family history and birth history were not significant. On examination, the child had pallor with frontal bossing and hepatosplenomegaly. Blood investigations revealed severe anemia and thrombocytopenia with raised serum alkaline phosphatase and phosphorus levels. Radiologically, the xrays of skull, spine ,thorax and forearm were suggestive of increased sclerosis with a dense bone in bone appearance. On ocular examination, the child was not fixing and following light and both the pupils were not reacting to light. Fundus examination of both eyes showed a clear media with disc pallor, normal vessels and a symmetric chorioretinal atrophic patch with pigmentation at the posterior pole. A diagnosis of malignant osteopetrosis with primary optic atrophy due to compressive optic neuropathy was made based on these findings.