Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome

Neuroradiology. 1995 May;37(4):328-30. doi: 10.1007/BF00588349.


We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn error of protein glycosylation characterised by failure to thrive, neurological dysfunction and a unique pattern of physical abnormalities. Neuro-radiological investigations revealed cerebellar hypoplasia in all seven children. Two children also developed supratentorial atrophy following episodes of neurological deterioration.

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / diagnostic imaging*
  • Cerebellum / abnormalities
  • Cerebellum / diagnostic imaging*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Male
  • Syndrome
  • Tomography, X-Ray Computed