1.
J Neuroimaging
; 24(4): 418-20, 2014.
Artículo
en Inglés
| MEDLINE
| ID: mdl-23621792
RESUMEN
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.
Asunto(s)
Blefaroptosis/congénito , Blefaroptosis/patología , Enanismo/patología , Hipertricosis/congénito , Hipertricosis/patología , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética/métodos , Tractos Piramidales/patología , Retinitis Pigmentosa/congénito , Retinitis Pigmentosa/patología , Adulto , Atrofia/patología , Discapacidades del Desarrollo/patología , Femenino , Humanos
2.
Arq Neuropsiquiatr
; 71(10): 824, 2013 Oct.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24212526
3.
Neurology
; 81(5): e27-8, 2013 Jul 30.
Artículo
en Inglés
| MEDLINE
| ID: mdl-23897881