Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis

J Nat Sci Biol Med. 2011 Jul;2(2):222-4. doi: 10.4103/0976-9668.92315.

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.

Keywords: Aqueductal stenosis; malignant osteopetrosis; osteoclasts; rickets.

Publication types

  • Case Reports