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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Detalles Bibliográficos
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
Descripción
Sumario: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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