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Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)

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Journal of Inherited Metabolic Disease

Abstract

Background and objectives

Pompe disease is a rare metabolic disorder due to lysosomal alpha-glucosidase (GAA) deficiency. It is considered as a multi-systemic disease since, although glycogen accumulation is largely prominent in heart, skeletal and respiratory muscles, other organs can also be affected. As regards the vascular system, few reports have documented cerebrovascular malformations in Pompe patients. The aim of this study was to define the presence and type of intracranial arterial abnormalities in a cohort of late onset Pompe disease (LOPD) patients.

Methods

We have studied 21 LOPD patients with cerebral CT angiography (CTA), using maximum intensity projection and volume rendering technique for 3D-image reconstruction.

Results

We found intracranial arterial abnormalities in 13/21 patients (62 %), of whom: 2/21 patients (9.5 %) showed an unruptured intracranial aneurysm (respectively 2 and 4 mm), 10/21 (47 %) had a vertebrobasilar dolichoectasia (VBD) and 1/21 a basilar artery fenestration. Signs of lacunar encephalopathy (insular, capsular and frontal subcortical lesions) were detected in 13/21 patients (62 %) and this correlated with the presence of respiratory impairment (p = 0.017).

Conclusions

These findings differ from what has been previously observed in healthy, aged-matched populations and confirm that cerebral arteries abnormalities, mainly involving the posterior circle, are not so rare in LOPD patients and are often accompanied by a lacunar encephalopathy that might represent a hypoxic-ischemic origin. A CTA or an MRA is recommended, in LOPD patients, for early detection of cerebrovascular malformations as they could lead to life-threatening events such as sub-arachnoid haemorrhage or brainstem compression.

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Authors and Affiliations

  1. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

    Federica Montagnese, Olimpia Musumeci, Carmelo Rodolico, Stefania Mondello, Emanuele Barca, Maria Cucinotta, Anna Ciranni & Antonio Toscano

  2. Department of Radiological Sciences, University of Messina, Messina, Italy

    Francesca Granata & Marcello Longo

Authors
  1. Federica Montagnese
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  2. Francesca Granata
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  3. Olimpia Musumeci
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  4. Carmelo Rodolico
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  5. Stefania Mondello
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  6. Emanuele Barca
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  7. Maria Cucinotta
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  8. Anna Ciranni
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  9. Marcello Longo
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  10. Antonio Toscano
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Corresponding author

Correspondence to Federica Montagnese.

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Conflict of interest

Antonio Toscano received from Genzyme-Sanofi grants and reimbursements for teaching courses and participation to meetings of Global Advisory Board for Pompe Disease. Federica Montagnese, Francesca Granata, Olimpia Musumeci, Carmelo Rodolico, Stefania Mondello, Emanuele Barca, Maria Cucinotta, Anna Ciranni and Marcello Longo declare that they have no conflict of interests.

Informed consent

All followed procedures were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Details of the contributions of individual authors

All the authors have contributed to the present work either in its conception and design or in the analysis and interpretation of the data.

Additional information

Communicated by: Greg Enns

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Montagnese, F., Granata, F., Musumeci, O. et al. Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD). J Inherit Metab Dis 39, 391–398 (2016). https://doi.org/10.1007/s10545-015-9913-x

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  • DOI: https://doi.org/10.1007/s10545-015-9913-x

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