title: Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Catania, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Pavone
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: R
authors.initials: R
authors.lastname: Rizzo
authors.forename: P
authors.initials: P
authors.lastname: Buttitta
authors.forename: W B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: 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