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Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD)

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Abstract

Pompe disease is a rare hereditary metabolic disorder caused by α-glucosidase (GAA) deficiency. The late-onset form of the disease (LOPD) is considered a multisystemic disorder which could involve vascular system with cerebrovascular abnormalities such as intracranial aneurysms or dolichoectasia. Intracranial aneurysm rupture may represent a life-threatening emergency. A possible treatment of unruptured intracranial aneurysms (UIAs) should consider both aneurysm-related (aneurysmal size, shape, localization, numbers and hemodynamic factors) and patient-related risk factors (patient’s age and sex, hypertension, smoke exposure). Moreover, UIAs management of LOPD patients needs also to take into account the altered blood vessels integrity and elasticity, whose consistency is likely weakened by the deficient GAA activity as a further potential risk factor. We herein present our approach for of UIAs management in three patients with LOPD. Among them, only one patient with a left saccular UIA of the anterior communicating artery, after careful consideration of risk factors, underwent the endovascular treatment. The other two patients were scheduled for a 1-year follow-up, according to radiological, clinical, and risk evaluation features. Finally, we would like to suggest some general recommendations for UIAs management. In particular, if no risk factors are identified, a cautious yearly follow-up is suggested; otherwise, if risk factors are present, endovascular treatment should be considered.

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Acknowledgments

The current paper has been developed in collaboration with the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) of Messina, Italy, of which OM, AC, GT and AT are components.

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Author notes

  1. Granata Francesca and Toscano Antonio contributed equally to this work.

Authors and Affiliations

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

    Mormina Enricomaria, Olimpia Musumeci, Anna Ciranni, Graziana Tavilla & Antonio Toscano

  2. Neuroradiology Unit Department of Biomedical Sciences and Morphological and Functional Images, University of Messina, Via Consolare Valeria 1, 98100, Messina, Italy

    Mormina Enricomaria, Agostino Tessitore, Antonio Pitrone, Sergio Lucio Vinci, Antonio Armando Caragliano, Marcello Longo & Francesca Granata

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  1. Mormina Enricomaria
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Correspondence to Mormina Enricomaria.

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Mormina, E., Musumeci, O., Tessitore, A. et al. Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD). Neurol Sci 42, 2411–2419 (2021). https://doi.org/10.1007/s10072-020-04819-2

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