Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.
Department of Geriatric Medicine, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.
Orphanet J Rare Dis. 2024 Jul 15;19(1):267. doi: 10.1186/s13023-024-03282-y.
Late-onset Pompe disease (LOPD) is mainly characterized by progressive limb-girdle muscle weakness and respiratory impairment, whereas stroke and cerebrovascular abnormalities have been insufficiently studied in LOPD. This study aimed to evaluate the frequency and pattern of intracranial artery and brain parenchyma abnormalities in LOPD patients.
Neuroimaging data from 30 Chinese adult LOPD patients were collected from our center. Seven patients (7/30) had acute cerebral infarction or hemorrhage. Brain magnetic resonance angiography (MRA) or computed tomography angiography (CTA) revealed artery abnormalities in 23 patients (23/30). Dilative arteriopathy was found in 19 patients (19/30), with vertebrobasilar dolichoectasia found in 17 patients and dilatation of the anterior circulation arteries found in 8 patients. The maximum diameter of the basilar artery was correlated with disease duration (p < 0.05). In addition, aneurysms (7/30) and fenestrations (3/30) were discovered. There were 14 patients with arterial stenosis (14/30), and both anterior and posterior circulation involvement occurred in 9 patients (9/14). Stenosis and dilative arteriopathy simultaneously occurred in 10 patients (10/30). White matter hyperintensities were present in 13 patients (13/28). Microbleeds, predominantly located in the cerebellum and brainstem, were detected in 7 patients (7/22) via susceptibility-weighted imaging.
Intracranial vasculopathy involving both large arteries and small vessels is an important organ damage in LOPD patients. LOPD should be considered a key differential diagnosis in young adults with cryptogenic stroke, and a series of imaging evaluations of the brain and intracranial blood vessels is recommended as a routine workup in adult LOPD patients.
晚发性庞贝病（LOPD）主要表现为进行性肢体带肌无力和呼吸功能损害，而脑卒中及其血管异常在 LOPD 中的研究还不够充分。本研究旨在评估 LOPD 患者颅内动脉和脑实质异常的频率和模式。
从我们中心收集了 30 例中国成年 LOPD 患者的神经影像学数据。7 例（7/30）患者发生急性脑梗死或脑出血。磁共振血管造影（MRA）或计算机断层血管造影（CTA）显示 23 例（23/30）患者存在动脉异常。19 例（19/30）患者存在扩张性动脉病，17 例患者存在椎基底动脉延长扩张，8 例患者存在前循环动脉扩张。基底动脉最大直径与病程相关（p<0.05）。此外，发现 7 例（30/30）患者存在动脉瘤，3 例（30/30）患者存在动静脉瘘。14 例（30/30）患者存在动脉狭窄，9 例（9/14）患者同时存在前后循环受累。10 例（10/30）患者同时存在狭窄和扩张性动脉病。13 例（13/28）患者存在脑白质高信号。通过磁敏感加权成像发现 7 例（7/22）患者存在微出血，主要位于小脑和脑干。
涉及大动脉和小血管的颅内血管病是 LOPD 患者的重要器官损害。LOPD 应被视为隐匿性脑卒中青年患者的关键鉴别诊断，建议对成年 LOPD 患者进行常规脑和颅内血管影像学评估。
