Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.
Pavone
L
L
Department of Pediatrics, University of Catania, Italy.
Fiumara
A
A
Barone
R
R
Rizzo
R
R
Buttitta
P
P
Dobyns
W B
WB
Jaeken
J
J
D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000150:complications* / Q000175:diagnosis