Laforêt P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B
Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 75651 Paris Cedex 13, France.
Neurology. 2008 May 27;70(22):2063-6. doi: 10.1212/01.wnl.0000313367.09469.13.
Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that cerebral vessel involvement could be an underrecognized complication of this disease.
We report cerebral artery involvement in three French patients with late-onset Pompe disease.
The first patient died at age 35 years from complications of a giant fusiform aneurysm of the basilar artery, and her 34-year-old sister showed evidence of dolichoectatic basilar artery on magnetic resonance angiography. A dilative arteriopathy complicated with carotid artery dissection was diagnosed in the third patient, aged 50 years. Two patients are currently being treated with enzyme replacement therapy (alglucosidase alfa), and regular angiographic follow-up showed the absence of progression of vascular abnormalities in one of them.
These observations, combined with previously reported cases, confirm that Pompe disease should be recognized as a predisposing condition to dilative arteriopathy and cerebral aneurysm formation, although the real incidence of these vascular complications remains unknown.
少数晚发型庞贝病患者曾有与颅内动脉瘤或动脉病变相关的中风报道。这些报道提示脑血管受累可能是该病一种未被充分认识的并发症。
我们报告了3例法国晚发型庞贝病患者的脑动脉受累情况。
首例患者35岁时死于基底动脉巨大梭形动脉瘤并发症，她34岁的妹妹在磁共振血管造影检查中显示有基底动脉迂曲扩张。第3例患者为50岁，诊断为扩张性动脉病变并发颈动脉夹层。2例患者目前正在接受酶替代治疗（阿糖苷酶α），定期血管造影随访显示其中1例患者的血管异常未进展。
这些观察结果与先前报道的病例相结合，证实庞贝病应被视为扩张性动脉病变和脑动脉瘤形成的易感因素，尽管这些血管并发症的实际发生率尚不清楚。
