Carbohydrate-deficient glycoprotein syndrome with previously unreported features

Acta Paediatr. 1994 Aug;83(8):892-6. doi: 10.1111/j.1651-2227.1994.tb13166.x.

Abstract

A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / pathology
  • Carbohydrate Metabolism, Inborn Errors / complications
  • Carbohydrate Metabolism, Inborn Errors / metabolism*
  • Carbohydrate Metabolism, Inborn Errors / pathology
  • Cataract / complications
  • Cataract / congenital
  • Epilepsies, Myoclonic / complications
  • Glycoproteins / metabolism*
  • Humans
  • Infant, Newborn
  • Male
  • Microscopy, Electron
  • Spinal Cord / pathology
  • Syndrome

Substances

  • Glycoproteins