Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida.
Division of Neuroradiology, Department of Radiology, University of Florida College of Medicine, Gainesville, Florida.
Pediatr Neurol. 2020 Jul;108:117-120. doi: 10.1016/j.pediatrneurol.2020.02.006. Epub 2020 Mar 3.
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.
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.
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.
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.
在庞贝病中，糖原沉积导致血流增加和异常重塑，导致动脉壁变弱，这可能导致大脑动脉病理性扩张。这种并发症在迟发性庞贝病患者中很少见，但在婴儿型庞贝病中尚未得到很好描述。酶替代疗法对这一过程的影响尚不清楚。
我们研究了两名表现出脑血管病的患者的临床和影像学数据：一名接受酶替代疗法的 14 岁婴儿型庞贝病患者和一名接受酶替代疗法的 23 岁迟发性庞贝病女性患者。
我们的 14 岁患者表现出主要是近端和椎基底动脉的脑血管病，而 23 岁患者则表现出更弥漫的模式。14 岁患者是独特的，因为婴儿型庞贝病中尚未描述过脑长段扩张。23 岁患者值得注意，因为她从 15 岁开始就接受了酶替代疗法，而且年龄较大。
婴儿型庞贝病中的扩张性脑血管病是新颖的，而我们的年轻迟发性庞贝病患者中所见的弥漫性血管扩张也是不典型的，两者都接受了酶替代疗法。无论疾病变异和酶替代疗法状况如何，我们都应该意识到庞贝病患者发生脑血管病的风险。
