Journal of vascular and interventional neurology · 2014
Diffuse cerebral microhemorrhages in a patient with adult-onset Pompe's disease: a case report.
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Sandhu Divyajot, Rizvi Adam, Kim Jae, Reshi Rwoof
Аннотация
BACKGROUND: Pompe's disease is a glycogen storage disease that manifests as progressive neuropathy, and myopathy. There are a few reports of vasculopathy in this disease, thought to be from small- and medium-vessel arteriopathy. We present a case of late-onset Pompe's disease with microhemorrhages and review of the pertinent literature.
METHODS: We describe a case of microhemorrhages in a patient with known late-onset Pompe's disease.
RESULTS: Our patient was noted to have numerous microhemorrhages concentrated in the posterior circulation distribution in what can best be described as central microhemorrhages, distinct from the pattern seen in amyloid angiopathy. Previous autopsy studies have found vacuoles in the vessel wall, resulting in small aneurysms as a part of the Pompe syndrome.
CONCLUSIONS: There is an accumulating body of evidence that suggests cerebral vasculopathy as one of the primary manifestations of adult-onset Pompe's disease. This is manifested as dolichoectasia of basilar artery, aneurysms, and microhemorrhages that are central in distribution. The primary pathology is thought to be glycogen deposition in small- and medium-sized intracranial vessels. Controlling blood pressure aggressively and screening intracranial vascular imaging are recommended. Further definition of the syndrome is continuing from phenotypic and genotypic dimensions.
METHODS: We describe a case of microhemorrhages in a patient with known late-onset Pompe's disease.
RESULTS: Our patient was noted to have numerous microhemorrhages concentrated in the posterior circulation distribution in what can best be described as central microhemorrhages, distinct from the pattern seen in amyloid angiopathy. Previous autopsy studies have found vacuoles in the vessel wall, resulting in small aneurysms as a part of the Pompe syndrome.
CONCLUSIONS: There is an accumulating body of evidence that suggests cerebral vasculopathy as one of the primary manifestations of adult-onset Pompe's disease. This is manifested as dolichoectasia of basilar artery, aneurysms, and microhemorrhages that are central in distribution. The primary pathology is thought to be glycogen deposition in small- and medium-sized intracranial vessels. Controlling blood pressure aggressively and screening intracranial vascular imaging are recommended. Further definition of the syndrome is continuing from phenotypic and genotypic dimensions.