CASE REPORT
Year : 2011  |  Volume : 2  |  Issue : 2  |  Page : 222-224

Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis


1 Department of Paediatrics, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India
2 Department of Orthopedics, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India

Correspondence Address:
Someshwar V Chate
Department of Paediatrics, At: Post Warwati, Taluka: Ambejogai, Dist. Beed, Maharashtra - 431 517
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0976-9668.92315

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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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