Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis

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, hepa...

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Detalles Bibliográficos
Autores principales: Chate, Someshwar V., Jaybhaye, Amol P., Somshekharan, Rekha, Rathod, Tushar N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276020/
https://www.ncbi.nlm.nih.gov/pubmed/22346242
http://dx.doi.org/10.4103/0976-9668.92315
Descripción
Sumario: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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