Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association.
We report a male with cerebellar ataxia, hypogonadism and chorioretinopathy. The age of onset was 12. The parents were first cousins. Endocrinologic studies demonstrated hypogonadotropic hypogonadism due to pituitary dysfunction. The ocular disorder involved the choriocapillaris and the retina. The association may represent a separate syndrome, seldom recognized in the past.
Erdem
E
E
Department of Neurology, Hacettepe University School of Medicine, Ankara, Turkey.
Kiratli
H
H
Erbaş
T
T
Varli
K
K
Eldem
B
B
Akalin
S
S
Tan
E
E
Topaloglu
H
H
Gedikoglu
G
G
D000328:Adult; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002825:Chorioretinitis / Q000175:diagnosis* / Q000235:genetics; D003241:Consanguinity; D006065:Gonadotropins, Pituitary / Q000172:deficiency*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D010901:Pituitary Function Tests; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D006065:Gonadotropins, Pituitary