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Title: Neuroimaging Features in Congenital Trichomegaly: the Oliver-McFarlane Syndrome
Authors: Pedroso, Jose Luiz [UNIFESP]
Rivero, Rene Leandro M. [UNIFESP]
Miranda, Victor Alexandre D. de [UNIFESP]
Avelino, Marcela Amaral [UNIFESP]
Dutra, Livia Almeida [UNIFESP]
Ribeiro, Rodrigo Souza [UNIFESP]
Nunes, Karlo Faria [UNIFESP]
Manzano, Gilberto Mastrocola [UNIFESP]
Barsottini, Orlando G. [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Delboni Auriemo
Keywords: Neuroimaging
cerebellar atrophy
corticospinal tracts
congenital trichomegaly
Oliver-McFarlane syndrome
Issue Date: 1-Jul-2014
Publisher: Wiley-Blackwell
Citation: Journal of Neuroimaging. Hoboken: Wiley-Blackwell, v. 24, n. 4, p. 418-420, 2014.
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.
ISSN: 1051-2284
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