Orphan disease: Cherubism, optic atrophy, and short stature

A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of m...

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Autores principales: Jeevanandham, Balaji, Ramachandran, Rajoo, Dhanapal, Vignesh, Subramanian, Ilanchezhian, Sai, Venkata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Paediatric Imaging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894306/
https://www.ncbi.nlm.nih.gov/pubmed/29692538
http://dx.doi.org/10.4103/ijri.IJRI_203_17
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author Jeevanandham, Balaji
Ramachandran, Rajoo
Dhanapal, Vignesh
Subramanian, Ilanchezhian
Sai, Venkata
author_facet Jeevanandham, Balaji
Ramachandran, Rajoo
Dhanapal, Vignesh
Subramanian, Ilanchezhian
Sai, Venkata
author_sort Jeevanandham, Balaji
collection PubMed
description A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.
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spelling pubmed-58943062018-04-24 Orphan disease: Cherubism, optic atrophy, and short stature Jeevanandham, Balaji Ramachandran, Rajoo Dhanapal, Vignesh Subramanian, Ilanchezhian Sai, Venkata Indian J Radiol Imaging Paediatric Imaging A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC5894306/ /pubmed/29692538 http://dx.doi.org/10.4103/ijri.IJRI_203_17 Text en Copyright: © 2018 Indian Journal of Radiology and Imaging http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Paediatric Imaging
Jeevanandham, Balaji
Ramachandran, Rajoo
Dhanapal, Vignesh
Subramanian, Ilanchezhian
Sai, Venkata
Orphan disease: Cherubism, optic atrophy, and short stature
title Orphan disease: Cherubism, optic atrophy, and short stature
title_full Orphan disease: Cherubism, optic atrophy, and short stature
title_fullStr Orphan disease: Cherubism, optic atrophy, and short stature
title_full_unstemmed Orphan disease: Cherubism, optic atrophy, and short stature
title_short Orphan disease: Cherubism, optic atrophy, and short stature
title_sort orphan disease: cherubism, optic atrophy, and short stature
topic Paediatric Imaging
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894306/
https://www.ncbi.nlm.nih.gov/pubmed/29692538
http://dx.doi.org/10.4103/ijri.IJRI_203_17
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