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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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
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author Chate, Someshwar V.
Jaybhaye, Amol P.
Somshekharan, Rekha
Rathod, Tushar N.
author_facet Chate, Someshwar V.
Jaybhaye, Amol P.
Somshekharan, Rekha
Rathod, Tushar N.
author_sort Chate, Someshwar V.
collection PubMed
description 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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spelling pubmed-32760202012-02-15 Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis Chate, Someshwar V. Jaybhaye, Amol P. Somshekharan, Rekha Rathod, Tushar N. J Nat Sci Biol Med Case Report 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. Medknow Publications & Media Pvt Ltd 2011 /pmc/articles/PMC3276020/ /pubmed/22346242 http://dx.doi.org/10.4103/0976-9668.92315 Text en Copyright: © Journal of Natural Science, Biology and Medicine http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Chate, Someshwar V.
Jaybhaye, Amol P.
Somshekharan, Rekha
Rathod, Tushar N.
Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
title Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
title_full Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
title_fullStr Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
title_full_unstemmed Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
title_short Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
title_sort aqueductal stenosis with optic atrophy in case of malignant osteopetrosis
topic Case Report
url 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
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AT somshekharanrekha aqueductalstenosiswithopticatrophyincaseofmalignantosteopetrosis
AT rathodtusharn aqueductalstenosiswithopticatrophyincaseofmalignantosteopetrosis

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