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Published on: May 29, 2021
Diffuse cerebral microhemorrhages in a patient with adult-onset Pompe's disease: a case report
Divyajot Sandhu1, Adam Rizvi1, Jae Kim1
1University of Minnesota Medical Center, Minneapolis, MN, USA.
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.
Insights
Late-onset Pompe disease can cause cerebral vasculopathy, including central microhemorrhages. This finding suggests a primary role for glycogen deposition in small and medium intracranial vessels.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Pompe disease, a glycogen storage disorder, typically causes progressive neuropathy and myopathy.
- Cerebral vasculopathy, including arteriopathy affecting small and medium vessels, is infrequently reported in Pompe disease.
- This study focuses on a case of late-onset Pompe disease presenting with microhemorrhages.
Purpose of the Study:
- To report a case of microhemorrhages in a patient with late-onset Pompe disease.
- To review the literature on cerebral vasculopathy in Pompe disease.
- To highlight the potential role of glycogen deposition in intracranial vessels.
Main Methods:
- Case presentation of a patient with known late-onset Pompe disease.
- Description of observed microhemorrhages, particularly their distribution.
- Review of existing autopsy studies and literature on Pompe syndrome and vasculopathy.
Main Results:
- The patient exhibited numerous central microhemorrhages, predominantly in the posterior circulation.
- This pattern of microhemorrhages differs from that typically seen in amyloid angiopathy.
- Autopsy studies indicate vessel wall vacuoles and small aneurysms as features of Pompe syndrome.
Conclusions:
- Cerebral vasculopathy, including dolichoectasia, aneurysms, and central microhemorrhages, is increasingly recognized in adult-onset Pompe disease.
- Glycogen deposition in small and medium intracranial vessels is the suspected underlying pathology.
- Recommendations include aggressive blood pressure control and screening with intracranial vascular imaging.
