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

Autor: Torsten Kraya, Stephan Zierz, Ole Hensel, Mathias Wieprecht, Ilka Schneider
Jazyk: angličtina
Rok vydání: 2018
Předmět:
0301 basic medicine
Adult
Male
medicine.medical_specialty
Cerebral arteries
Height of basilar bifurcation
lcsh:Medicine
Late onset
Glycogenosis type II
Disease
Dolichoectasia of basilar artery
03 medical and health sciences
0302 clinical medicine
Internal medicine
medicine.artery
medicine
Basilar artery
Vertebrobasilar Insufficiency
Acid maltase deficiency
Humans
Pharmacology (medical)
SCA)
Age of Onset
Superior cerebellar artery
Superior cerebellar artery (SUCA
Genetics (clinical)
Aged
medicine.diagnostic_test
business.industry
Glycogen Storage Disease Type II
Research
lcsh:R
General Medicine
Middle Aged
Hyperintensity
Late onset Pompe disease (LOPD)
030104 developmental biology
Dilative arteriopathy
Basilar Artery
Angiography
Cardiology
Thalamic hemorrhage
Female
business
030217 neurology & neurosurgery
Magnetic Resonance Angiography
Zdroj: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
ISSN: 1750-1172
Popis: 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. Electronic supplementary material The online version of this article (10.1186/s13023-018-0794-6) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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