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

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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.

Electronic supplementary material

The online version of this article (10.1186/s13023-018-0794-6) contains supplementary material, which is available to authorized users.

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Most cited references 19

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Natural history of vertebrobasilar dolichoectasia.

Simone Rossi, S Passero (2008)

The long-term prognosis of patients with vertebrobasilar dolichoectasia (VBD) is unknown. The purpose of this study was to explore the natural history of VBD, evaluate its progression, and examine factors that may influence the clinical course of this condition. We conducted a prospective clinical and imaging follow-up study of 156 consecutive patients with VDB followed for an average of 11.7 years. Predictors of events were evaluated by multivariate analysis. Survival analysis was used to evaluate rates of incidence. During follow-up, 93 patients (60%) experienced at least one event: 75 patients had stroke (59 ischemic and 21 hemorrhagic), 31 patients had new compressive symptoms, and 2 patients had hydrocephalus. Events were significantly associated with the severity of VBD, i.e., diameter, height of bifurcation, and lateral displacement of the basilar artery. During follow-up VBD progressed in 43% of patients. Progression of VBD was associated with a higher morbidity and mortality. The cumulative proportion of survivors free of adverse health event was 54.1 at 5 years, 39.5 at 10 years, and 23.5 at 15 years. During follow-up, 62 patients died and stroke was the most common cause of death. The long-term prognosis of patients with vertebrobasilar dolichoectasia (VBD) depended mainly on the severity of the condition at diagnosis and on its evolutionary characteristics. Progression of VBD exposed patients to high risk of adverse events, especially stroke.

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Vertebrobasilar dilatative arteriopathy (dolichoectasia).

Louis Caplan, Min Lou (2009)

Dolichoectasia (dilatative arteriopathy) describes marked elongation, widening, and tortuosity of arteries. The intracranial vertebral and basilar arteries are preferentially involved. Dolichoectatic arteries usually have an abnormally large external diameter and a thin arterial wall, with degeneration of the internal elastic lamina, multiple gaps in the internal elastica, thinning of the media secondary to reticular fiber deficiency, and smooth muscle atrophy. The most important clinical presentations of dilatative arteriopathy include acute brain ischemia; a progressive course related to compression of cranial nerves, the brain stem, or the third ventricle; and catastrophic outcome caused by vascular rupture. Flow in dilated arteries can become bidirectional, resulting in reduced antegrade flow and thrombus formation. Elongation and angulation of arteries can stretch and distort the orifices of arterial branches, leading to decreased blood flow, especially in penetrating branches.

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High-resolution computed tomography of the basilar artery: 2. Vertebrobasilar dolichoectasia: clinical-pathologic correlation and review.

W R Smoker, J J Corbett, L R Gentry … (2015)

To better define the clinical significance of vertebrobasilar dolichoectasia, the clinical signs and symptoms and basilar artery parameters of diameter, height, and transverse position were evaluated in two groups of symptomatic patients. Ten patients had isolated involvement of the third, sixth, or seventh cranial nerves. The other 10 patients had multiple neurologic deficits including combinations of compressive cranial nerve deficits, both ischemic and compressive central nervous system deficits, and hydrocephalus. Although significant differences for mean basilar artery diameter and height exist between these two groups, the symptomatology and basilar artery parameters present as a spectrum. A symptomatic patient with a normal-caliber, but tortuous, basilar artery is more likely to have isolated cranial nerve involvement. Conversely, the patient with marked basilar artery dilatation (ectasia) is far more likely to present with multiple compressive or ischemic neurologic deficits. Conventional angiography in patients with dilated basilar arteries carries a significant risk for brainstem ischemia. Most authors agree that when vertebrobasilar dolichoectasia has been demonstrated by computed tomography, additional angiography, if required at all, should be performed by digital subtraction techniques.

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Author and article information

Contributors

Ole Hensel: ole.hensel@medizin.uni-halle.de

Ilka Schneider:

ORCID: http://orcid.org/0000-0002-7109-2542

+49345/557 2773 , ilka.schneider@uk-halle.de

Mathias Wieprecht: mathias.wieprecht@uk-halle.de

Torsten Kraya: torsten.kraya@medizin.uni-halle.de

Stephan Zierz: stephan.zierz@medizin.uni-halle.de

Journal

Journal ID (nlm-ta): Orphanet J Rare Dis

Journal ID (iso-abbrev): Orphanet J Rare Dis

Title: Orphanet Journal of Rare Diseases

Publisher: BioMed Central (London )

ISSN (Electronic): 1750-1172

Publication date (Electronic): 13 April 2018

Publication date PMC-release: 13 April 2018

Publication date Collection: 2018

Volume: 13

Electronic Location Identifier: 57

Affiliations

[1 ]Department of Neurology, University hospital Halle/Saale, Ernst-Grube-Str. 40, 06120 Halle/Saale, Germany

[2 ]ISNI 0000 0004 0390 1701, GRID grid.461820.9, Department of Diagnostic Radiology, , University hospital Halle, ; Ernst-Grube-Str. 40, Halle/Saale, Germany

Author information

Ilka Schneider http://orcid.org/0000-0002-7109-2542

Article

Publisher ID: 794

DOI: 10.1186/s13023-018-0794-6

PMC ID: 5899367

PubMed ID: 29653542

SO-VID: d392b9f4-5dbe-40e8-bfbc-503b6a376c26

License:

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 30 December 2017

Date accepted : 22 March 2018

Custom metadata

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: late onset pompe disease (lopd),dolichoectasia of basilar artery,dilative arteriopathy,height of basilar bifurcation,glycogenosis type ii,superior cerebellar artery (suca,sca),acid maltase deficiency

Data availability:

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: late onset pompe disease (lopd), dolichoectasia of basilar artery, dilative arteriopathy, height of basilar bifurcation, glycogenosis type ii, superior cerebellar artery (suca, sca), acid maltase deficiency

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

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Most cited references 19

Natural history of vertebrobasilar dolichoectasia.

Vertebrobasilar dilatative arteriopathy (dolichoectasia).

High-resolution computed tomography of the basilar artery: 2. Vertebrobasilar dolichoectasia: clinical-pathologic correlation and review.

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