Open AccessAqueductal stenosis with optic atrophy in case of malignant osteopetrosis
Author(s) -
Someshwar Chate,
Amol P Jaybhaye,
Rekha Somshekharan,
Tushar Rathod
Publication year - 2011
Publication title -
journal of natural science, biology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 30
eISSN - 2229-7707
pISSN - 0976-9668
DOI - 10.4103/0976-9668.92315
Subject(s) - hepatosplenomegaly , osteopetrosis , aqueductal stenosis , medicine , macrocephaly , short stature , atrophy , hydrocephalus , anemia , pathology , pediatrics , disease , surgery
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.