publication . Article . 2018

Orphan disease: Cherubism, optic atrophy, and short stature

Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai;
Open Access
  • Published: 01 Jan 2018 Journal: Indian Journal of Radiology and Imaging, volume 28, page 111 (issn: 0971-3026, Copyright policy)
  • Publisher: Medknow
Abstract
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.
Subjects
Medical Subject Headings: genetic structureseye diseases
free text keywords: Disease, Magnetic resonance imaging, medicine.diagnostic_test, medicine, Fibrous dysplasia, medicine.disease, Computed tomography, Atrophy, Pathology, medicine.medical_specialty, Short stature, medicine.symptom, Cherubism, Radiology, Physical examination, business.industry, business, Paediatric Imaging, optic atrophy, Cherubism; fibrous dysplasia; optic atrophy; short stature, Medical physics. Medical radiology. Nuclear medicine, R895-920
Related Organizations

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publication . Article . 2018

Orphan disease: Cherubism, optic atrophy, and short stature

Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai;