Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns W B, Jaeken J
Department of Pediatrics, University of Catania, Italy.
J Neurol. 1996 Oct;243(10):700-5. doi: 10.1007/BF00873975.
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.
