title: Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.
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.
authors.affiliation: Centre de Référence des maladies Neuromusculaires, Hôpital Archet 1, 151 Route de Saint Antoine de Ginestière, 06202, Nice, France. sacconi@unice.fr
authors.forename: Sabrina
authors.initials: S
authors.lastname: Sacconi
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Bocquet
authors.forename: Stéphane
authors.initials: S
authors.lastname: Chanalet
authors.forename: Véronique
authors.initials: V
authors.lastname: Tanant
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Claude
authors.initials: C
authors.lastname: Desnuelle
mesh_terms: D000328:Adult; D000368:Aged; D002539:Cerebral Arterial Diseases / Q000175:diagnosis / Q000209:etiology*; D002536:Cerebral Arteries / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications*; D006801:Humans; D018810:Magnetic Resonance Angiography / Q000379:methods; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009130:Muscle, Smooth / Q000503:physiopathology; D011859:Radiography