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Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.
Orphanet J Rare Dis. 2018 04 13; 13(1):57.OJ

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.

Authors+Show Affiliations

Department of Neurology, University hospital Halle/Saale, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany. ole.hensel@medizin.uni-halle.de.Department of Neurology, University hospital Halle/Saale, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany. ilka.schneider@uk-halle.de.Department of Diagnostic Radiology, University hospital Halle, Ernst-Grube-Str. 40, Halle/Saale, Germany.Department of Neurology, University hospital Halle/Saale, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany.Department of Neurology, University hospital Halle/Saale, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29653542

Citation

Hensel, Ole, et al. "Decreased Outlet Angle of the Superior Cerebellar Artery as Indicator for Dolichoectasia in Late Onset Pompe Disease." Orphanet Journal of Rare Diseases, vol. 13, no. 1, 2018, p. 57.
Hensel O, Schneider I, Wieprecht M, et al. Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease. Orphanet J Rare Dis. 2018;13(1):57.
Hensel, O., Schneider, I., Wieprecht, M., Kraya, T., & Zierz, S. (2018). Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease. Orphanet Journal of Rare Diseases, 13(1), 57. https://doi.org/10.1186/s13023-018-0794-6
Hensel O, et al. Decreased Outlet Angle of the Superior Cerebellar Artery as Indicator for Dolichoectasia in Late Onset Pompe Disease. Orphanet J Rare Dis. 2018 04 13;13(1):57. PubMed PMID: 29653542.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease. AU - Hensel,Ole, AU - Schneider,Ilka, AU - Wieprecht,Mathias, AU - Kraya,Torsten, AU - Zierz,Stephan, Y1 - 2018/04/13/ PY - 2017/12/30/received PY - 2018/03/22/accepted PY - 2018/4/15/entrez PY - 2018/4/15/pubmed PY - 2019/4/16/medline KW - Acid maltase deficiency KW - Dilative arteriopathy KW - Dolichoectasia of basilar artery KW - Glycogenosis type II KW - Height of basilar bifurcation KW - Late onset Pompe disease (LOPD) KW - SCA) KW - Superior cerebellar artery (SUCA SP - 57 EP - 57 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 13 IS - 1 N2 - 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/29653542/Decreased_outlet_angle_of_the_superior_cerebellar_artery_as_indicator_for_dolichoectasia_in_late_onset_Pompe_disease_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0794-6 DB - PRIME DP - Unbound Medicine ER -