Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1

Pediatr Radiol. 1999 Mar;29(3):194-8. doi: 10.1007/s002470050571.


We report three children, all younger than 2 years of age, presenting with cerebellar atrophy related to carbohydrate-deficient glycoprotein syndrome type 1, an autosomal recessive metabolic disease. One patient had multisystem disease; two others had mental retardation with ataxia. In all cases the cerebellar atrophy was diagnosed on magnetic resonance imaging and, in one case, confirmed by autopsy. The cerebellar atrophy predominantly affected the anterior lobe. Vertical orientation of the tentorium cerebelli from the neonatal period in two cases suggests antenatal onset of the disease. Biological tests confirmed the diagnosis in all cases.

Publication types

  • Case Reports

MeSH terms

  • Atrophy / diagnosis
  • Cerebellar Diseases / diagnosis*
  • Cerebellar Diseases / etiology
  • Cerebellum / pathology*
  • Congenital Disorders of Glycosylation / complications
  • Congenital Disorders of Glycosylation / diagnosis*
  • Diagnosis, Differential
  • Fatal Outcome
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male