Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease | Orphanet Journal of Rare Diseases | Full Text

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

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

• Ole HenselEmail author,
• Ilka SchneiderEmail authorView ORCID ID profile,
• Mathias Wieprecht,
• Torsten Kraya and
• Stephan Zierz

Orphanet Journal of Rare Diseases201813:57

https://doi.org/10.1186/s13023-018-0794-6

©  The Author(s). 2018

Received: 30 December 2017

Accepted: 22 March 2018

Published: 13 April 2018

Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.

Keywords

Late onset Pompe disease (LOPD)Dolichoectasia of basilar arteryDilative arteriopathyHeight of basilar bifurcationGlycogenosis type IISuperior cerebellar artery (SUCASCA)Acid maltase deficiency