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Neuroimaging Features in Congenital Trichomegaly: The Oliver‐McFarlane Syndrome
Author(s) -
Pedroso José Luiz,
Rivero René Leandro M.,
Miranda Victor Alexandre D.,
Avelino Marcela Amaral,
Dutra Lívia Almeida,
Ribeiro Rodrigo Souza,
Nunes Karlo Faria,
Manzano Gilberto Mastrocola,
Barsottini Orlando G.
Publication year - 2013
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/jon.12025
Subject(s) - medicine , fluid attenuated inversion recovery , neuroimaging , atrophy , cerebellar ataxia , scalp , neurological examination , magnetic resonance imaging , ataxia , neuroscience , pathology , radiology , anatomy , surgery , psychiatry , psychology
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.