Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome.

Abstract

A 23-year-old woman presented to our hospital with 9 months history of progressive ataxia, visual loss since childhood due to retinitis pigmentosa and primary amenorrhea. On examination, there were also sparse scalp hair, very long and curled upwards eyelashes and short stature. Oliver-McFarlane syndrome was suspected. Brain MRI disclosed cerebellar atrophy and hyperintense signal in corticospinal tracts on FLAIR and T2-weighted images. Therefore, brain imaging must be thoroughly investigated in patients with suspected Oliver-McFarlane syndrome, in order to determinate whether cerebellar atrophy and hyperintense signal in corticospinal tracts are part of this neurological condition.

• Authors: José Luiz Pedroso, René Leandro M Rivero, Victor Alexandre D de Miranda, Marcela Amaral Avelino, Lívia Almeida Dutra, Rodrigo Souza Ribeiro, Karlo Faria Nunes, Gilberto Mastrocola Manzano, Orlando G Barsottini
• Journal: Journal of neuroimaging : official journal of the American Society of Neuroimaging (J Neuroimaging) Vol. 24 Issue 4 Pg. 418-20 ( 2014) ISSN: 1552-6569 [Electronic] United States
• PMID: 23621792 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 by the American Society of Neuroimaging.

Topics

• Adult
• Atrophy (pathology)
• Blepharoptosis (congenital, pathology)
• Developmental Disabilities (pathology)
• Dwarfism (pathology)
• Female
• Humans
• Hypertrichosis (congenital, pathology)
• Intellectual Disability (pathology)
• Magnetic Resonance Imaging (methods)
• Pyramidal Tracts (pathology)
• Retinitis Pigmentosa (congenital, pathology)