Carbohydrate-deficient glycoprotein syndrome with previously unreported features.
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.
Eyskens
F
F
General Pediatric Hospital, Antwerp, Belgium.
Ceuterick
C
C
Martin
J J
JJ
Janssens
G
G
Jaeken
J
J
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
D006023:Glycoproteins