title: Cerebrovascular disease in type 1A glycogen storage disease.
abstract: Glycogen storage diseases are a group of genetic disorders involving pathways for storage of glycogen and its utilization to maintain blood glucose. Clinical manifestations include hypoglycaemia, hepatomegaly, delayed adolescence and hyperlipidaemia. Hyperlipidaemia is frequent and patients surviving long enough are thought to be at increased risk of atherosclerosis. However, no cases have previously been reported. Presented is a 27-year-old male with glycogen storage disease type 1A who sustained a pontine infarction due to basilar artery stenosis. It is believed the cause of this infarction was accelerated atherosclerosis. This is of major significance to those with this disease process who are now surviving into their third and later decades due to improved management of this condition.
authors.affiliation: Neurology Unit, The Alfred Healthcare Group, PO Box 315 Prahran, Victoria 3181, Australia.
authors.forename: M D
authors.initials: MD
authors.lastname: Berzsenyi
authors.forename: B M
authors.initials: BM
authors.lastname: Brady
authors.forename: C J
authors.initials: CJ
authors.lastname: O'Donnell
authors.forename: J H
authors.initials: JH
authors.lastname: Frayne