title: 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.affiliation: Department of Neurology, Division of General Neurology and Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.forename: René Leandro M
authors.initials: RL
authors.lastname: Rivero
authors.forename: Victor Alexandre D
authors.initials: VA
authors.lastname: de Miranda
authors.forename: Marcela Amaral
authors.initials: MA
authors.lastname: Avelino
authors.forename: Lívia Almeida
authors.initials: LA
authors.lastname: Dutra
authors.forename: Rodrigo Souza
authors.initials: RS
authors.lastname: Ribeiro
authors.forename: Karlo Faria
authors.initials: KF
authors.lastname: Nunes
authors.forename: Gilberto Mastrocola
authors.initials: GM
authors.lastname: Manzano
authors.forename: Orlando G
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology; D001763:Blepharoptosis / Q000151:congenital* / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology; D004392:Dwarfism / Q000473:pathology*; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D011712:Pyramidal Tracts / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000151:congenital* / Q000473:pathology*
keywords: Neuroimaging, cerebellar atrophy; Oliver-McFarlane syndrome; congenital trichomegaly; corticospinal tracts