title: Carbohydrate-deficient glycoprotein syndrome with previously unreported features.
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.
authors.affiliation: General Pediatric Hospital, Antwerp, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Eyskens
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: G
authors.initials: G
authors.lastname: Janssens
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D001921:Brain / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D002386:Cataract / Q000150:complications / Q000151:congenital; D004831:Epilepsies, Myoclonic / Q000150:complications; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome
chemical_list: D006023:Glycoproteins