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Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
Someshwar V Chate1, Amol P Jaybhaye, Rekha Somshekharan
1Department of Paediatrics, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India.
Abstract:
Malignant osteopetrosis is a rare autosomal recessive bone disease usually present with short stature, severe anemia, thrombocytopenia, hepatosplenomegaly, and macrocephaly. Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.
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