Background

In Pompe disease, glycogen deposition results in an augmentation of blood flow and abnormal remodeling, with resultant weakening of the arterial walls, which may result in pathologic dilatation of the cerebral arteries. This complication is rare in patients with late-onset Pompe disease, but it has not been well-described in infantile-onset Pompe disease. The effect of enzyme replacement therapy on this process is not known.

Methods

We examined clinical and imaging data on two patients who exhibit cerebrovascular arteriopathy: a 14-year-old boy with infantile-onset Pompe disease on enzyme replacement therapy and a 23-year-old woman with late-onset Pompe disease who was also receiving enzyme replacement therapy.

Results

Our 14-year-old patient exhibits cerebrovascular arteriopathy, primarily proximal and vertebrobasilar, while the 23-year-old patient has a more diffuse pattern. The 14-year-old patient is unique because cerebral dolichoectasias have not been described in infantile-onset Pompe disease. The 23-year-old patient is notable given the age and history of enzyme replacement therapy since age 15 years.

Conclusions

Dilative cerebral arteriopathy in infantile-onset Pompe disease is novel and similarly atypical is the diffuse vascular dilation seen in our young patient with late-onset Pompe disease, both receiving enzyme replacement therapy. We should be cognizant of the risk of cerebrovascular disease in Pompe disease regardless of the disease variant and enzyme replacement therapy status.

中文翻译：

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经典庞贝病中的扩张型脑动脉病：一个新发现。

背景

在庞贝病中，糖原沉积导致血流量增加和异常重塑，从而导致动脉壁变弱，这可能导致脑动脉病理性扩张。这种并发症在晚期庞贝病患者中很少见，但在婴儿庞贝病中并未得到充分描述。酶替代疗法对此过程的影响尚不清楚。

方法

我们检查了两名表现出脑血管性动脉病的患者的临床和影像学数据：一名14岁男孩患有婴儿发作性庞贝病的酶替代疗法和一名23岁患有晚期庞贝病患者的女性，他也接受了酶替代疗法。

结果

我们的14岁患者表现出脑血管病，主要是近端和椎基底动脉，而23岁患者则表现出更弥漫的模式。这位14岁的患者是独一无二的，因为尚未在婴儿发作的庞贝病中描述过脑部多发性线虫病。考虑到15岁以来酶替代疗法的年龄和病史，这名23岁患者值得注意。

结论

婴儿发作性庞培病中的扩张性脑动脉病是新颖的，同样不典型的是我们的年轻晚期庞培病患者均接受了酶替代治疗，弥漫性血管扩张。无论疾病变种和酶替代疗法的状态如何，我们都应该意识到庞贝病中脑血管疾病的风险。