Department of Neurology, University hospital Halle/Saale, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany.
Department of Diagnostic Radiology, University hospital Halle, Ernst-Grube-Str. 40, Halle/Saale, Germany.
Orphanet J Rare Dis. 2018 Apr 13;13(1):57. doi: 10.1186/s13023-018-0794-6.
Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently reported. Therefore progression of BA dolichoectasia in late onset Pompe patients (LOPD) was studied.
BA length, diameter and volume, and cerebral lesions were analysed by MRI/TOF-MR angiography or CT/CT angiography in 20 LOPD patients and 40 controls matching in age, sex- and cardiovascular risk factors. The height of BA bifurcation was assessed semi-quantitatively using the Smoker's criteria and quantitatively by measuring the outlet angle of the superior cerebellar artery (SUCA). Nine patients were followed over 5 years.
The height of the BA bifurcation was abnormal in 12/20 (60%) LOPD patients and in 12/40 (30%) matched controls. The SUCA outlet angle was reduced in LOPD patients compared to controls (127 ± 33° vs. 156 ± 32°, p = 0.0024). The diameter, length and volume of the BA were significantly increased in LOPD patients compared to controls. 12/20 (60%) LOPD patients and 27/40 (68%) controls presented white matter lesions. During 5 years 2/9 LOPD patients developed an abnormal height of BA bifurcation according to the Smoker's criteria and in all patients the SUCA outlet angle decreased (138 ± 34° vs. 128 ± 32°, p = 0.019). One patient with prominent basilar dolichoectasia experienced a thalamic hemorrhage.
Pompe disease is associated with BA dilation, elongation and elevated bifurcation height of the BA which might result in cerebrovascular complications. The SUCA outlet angle seems to be useful for monitoring the progression of BA dolichoectasia.
溶酶体 α-葡萄糖苷酶缺乏症（庞贝病）不仅导致骨骼肌中糖原积累，还导致大脑动脉中糖原积累。基底动脉（BA）的梭形扩张已被频繁报道。因此，研究了迟发性庞贝病（LOPD）患者 BA 梭形扩张的进展情况。
通过 MRI/TOF-MRA 或 CT/CTA 分析 20 例 LOPD 患者和 40 例年龄、性别和心血管危险因素匹配的对照组的 BA 长度、直径和体积以及脑病变。使用 Smoker 标准对 BA 分叉的高度进行半定量评估，并通过测量小脑上动脉（SUCA）的出口角度进行定量评估。9 例患者进行了 5 年以上的随访。
20 例 LOPD 患者中有 12 例（60%）和 40 例对照组中有 12 例（30%）BA 分叉高度异常。与对照组相比，LOPD 患者的 SUCA 出口角度减小（127±33° vs. 156±32°，p=0.0024）。与对照组相比，LOPD 患者的 BA 直径、长度和体积明显增加。20 例 LOPD 患者中有 12 例（60%）和 40 例对照组中有 27 例（68%）存在白质病变。在 5 年期间，根据 Smoker 标准，2 例 LOPD 患者出现 BA 分叉高度异常，所有患者的 SUCA 出口角度均减小（138±34° vs. 128±32°，p=0.019）。1 例基底动脉梭形扩张明显的患者发生丘脑出血。
庞贝病与 BA 扩张、伸长和 BA 分叉高度升高有关，这可能导致脑血管并发症。SUCA 出口角度似乎可用于监测 BA 梭形扩张的进展。
