Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I

J Neurol. 1996 Oct;243(10):700-5. doi: 10.1007/BF00873975.

Abstract

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology
  • Child
  • Congenital Disorders of Glycosylation / complications*
  • Congenital Disorders of Glycosylation / diagnosis
  • Female
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Olivopontocerebellar Atrophies / complications*
  • Olivopontocerebellar Atrophies / diagnosis