Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association

Clin Neurol Neurosurg. 1994 Feb;96(1):86-91. doi: 10.1016/0303-8467(94)90036-1.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Atrophy
  • Cerebellum / pathology
  • Chorioretinitis / diagnosis*
  • Chorioretinitis / genetics
  • Consanguinity
  • Gonadotropins, Pituitary / deficiency*
  • Humans
  • Hypogonadism / diagnosis*
  • Hypogonadism / genetics
  • Magnetic Resonance Imaging
  • Male
  • Pituitary Function Tests
  • Spinocerebellar Degenerations / diagnosis*
  • Spinocerebellar Degenerations / genetics
  • Syndrome
  • Tomography, X-Ray Computed

Substances

  • Gonadotropins, Pituitary