Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease |
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Authors: | Sabrina Sacconi Jonathan D Bocquet Stéphane Chanalet Véronique Tanant Leonardo Salviati Claude Desnuelle |
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Institution: | 1. Centre de Référence des maladies Neuromusculaires, H?pital Archet 1, 151 Route de Saint Antoine de Ginestière, 06202, Nice, France 2. CNRS, UMR 6543, University of Nice, Nice, France 3. Department of Interventional Radiology (UNRI), Pierre Zobda Quitman Hospital, Fort de France, France 4. Department of Radiology, Pasteur Hospital, Nice, France 5. Clinical Genetics Unit Department of Pediatrics, University of Padova, Padova, Italy
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Abstract: | Cerebral aneurysms and arteropathies causing severe cerebrovascular events have been reported as rare complications in patients
with late-onset Pompe disease. We investigated the frequency of cerebrovascular anomalies in six patients with late-onset
Pompe disease followed at our institution. Clinical data collection and magnetic resonance angiography were performed as part
of routine annual examinations. Four out of six patients had brain vascular anomalies including dolichoectasia of the basilar
artery and ectasia of internal carotids. These patients also complained of gastrointestinal symptoms (chronic constipation
and gastrointestinal reflux). Two patients had clinical signs related to the arteriopathy, including partial paralysis of
the third cranial nerve and transient ischemic attacks. At 1 year follow-up, enzyme replacement therapy did not modify the
size of cerebral vessels, but patients reported a marked improvement of intestinal symptoms. In conclusion, neurologists should
be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should
be specifically investigated in the presence of unexplained CNS symptoms. |
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