Journal of Neurology

, Volume 243, Issue 10, pp 700–705 | Cite as

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

  • Lorenzo Pavone
  • Agata Fiumara
  • Rita Barone
  • Renata Rizzo
  • Piera Buttitta
  • William B. Dobyns
  • Jaak Jaeken
Original Communication

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.

Key words

Carbohydrate-deficient glycoprotien syndromme Olivopontocerebellar atrophy 

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Lorenzo Pavone
    • 1
  • Agata Fiumara
    • 1
  • Rita Barone
    • 1
  • Renata Rizzo
    • 1
  • Piera Buttitta
    • 2
  • William B. Dobyns
    • 3
  • Jaak Jaeken
    • 4
  1. 1.Department of PediatricsUniversity of CataniaCataniaItaly
  2. 2.Department of NeonatologyG. Cristina HospitalPalermoItaly
  3. 3.Department of Neurology, Division of Pediatric NeurologyUniversity of MinnesotaMinneapolisUSA
  4. 4.Department of Paediatrics, Centre for Metabolic DiseasesUniversity of LeuvenLeuvenBelgium

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