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Basilar artery dolichoectasia, ectasia of internal carotids and intracranial aneurysm have been described in late-onset glycogenosis II (GSD II). Incidence of these anomalies and their relationship to the genotype are unknown. Also, because studying cerebral vessels is not recommended for diagnosis of late-onset GSDII, the frequency of these anomalies may be underestimated. Therefore, we investigated the occurrence of vascular anomalies in eight siblings (4M, 4F) of an Italian family affected by late-onset GSDII due to a compound mutation (c.118C>T in exon 2 and c.2647-7G>A in intron 18) of the acid α-glucosidase (GAA) gene (17q21-23).

Cerebral vascular anomalies in a large Italian family with late-onset glycogenosis II