Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease

Abstract

BackgroundLysosomal 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.MethodsBA 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.ResultsThe 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.ConclusionPompe 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.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0794-6) contains supplementary material, which is available to authorized users.

Response: Late-onset Pompe disease manifests in the brain

“…We agree with Finsterer that LOPD has most likely an impact on cerebral pathology since glycogen storage occurs in cerebral vessels and brain tissue which is not reachable by the current ERT. In fact, our previous studies [10] and others confirm prominent vertebrobasilar ectasia in LOPD patients [6].…”

Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

“…LOPD patients of this study also revealed balance deficiencies in visual and nigrostriatal regulation, cerebellar regulation, and in the vestibular subsystem with various interactions between the subsystems. This reflects the multi-systemic nature of Pompe disease since there are reports about cerebral [35,36] and vestibulocochlear affections [37] in LOPD patients. However, visual function has not yet been found when analyzed by evoked potentials [38].…”

A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting

“…Particular attention to the tongue while reviewing brain MRIs may be a crucial clue for the diagnosis of muscle weakness in adult LOPD patients [ 45 ]. Dolichoectasia of the basilar artery (BA) is the most striking cerebrovascular finding in adult LOPD patients as Pompe disease is associated with BA dilation, elongation, and elevated bifurcation height of the BA, resulting in cerebrovascular complications [ 46 ]. Therefore, neurologists should recommend a computer tomography angiography or a magnetic resonance angiography in adult LOPD patients for early detection of cerebrovascular malformations as these could lead to life-threatening events such as subarachnoid hemorrhage or brainstem compression [ 33 ].…”