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Published in: BMC Neurology 1/2021

Open Access 01-12-2021 | Angiography | Case report

Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report

Authors: Stefano Cotti Piccinelli, Enrico Premi, Sonia Bonacina, Nicola Gilberti, Veronica Vergani, Massimo Gamba, Raffaella Spezi, Ilenia Delrio, Michaël Bernier, Angelo Costa, Marco Ravanelli, Marina Colombi, Roberto Gasparotti, Alessandro Padovani, Mauro Magoni

Published in: BMC Neurology | Issue 1/2021

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Abstract

Background

Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving connective tissues, only few cases of cerebrovascular events related to this syndrome have been described so far.

Case presentation

We report the case of a 33-years-old male diagnosed with ATS since childhood, that experienced three sudden episodes of expressive aphasia and right hemiparesis with spontaneous resolution. He was treated with recombinant tissue plasminogen activator (r-TPA) at a dosage of 0.9 mg/kg with a complete recovery. Brain Magnetic Resonance Imaging (MRI) showed the absence of acute ischemic lesions and the patient was diagnosed with recurrent transient ischemic attacks (TIA).
Intracranial and supra-aortic trunks Magnetic Resonance Angiography (MRA) and Angio-CT scan of the thoracic and abdominal aorta showed marked vessel tortuosity without stenosis.
To our knowledge, this is the first reported case of an ATS patient with TIA in young age that was treated with intravenous thrombolysis with recombinant plasminogen activator.

Conclusion

Our report strengthens the relationship between ATS and juvenile cerebrovascular events, suggesting that an extensive study of body vessels in order to detect potential stenoses or occlusions in these cases is needed.
The greater predisposition to cerebrovascular events in ATS could benefit from a more aggressive primary and secondary prevention therapy.
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Metadata
Title
Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
Authors
Stefano Cotti Piccinelli
Enrico Premi
Sonia Bonacina
Nicola Gilberti
Veronica Vergani
Massimo Gamba
Raffaella Spezi
Ilenia Delrio
Michaël Bernier
Angelo Costa
Marco Ravanelli
Marina Colombi
Roberto Gasparotti
Alessandro Padovani
Mauro Magoni
Publication date
01-12-2021
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2021
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-021-02458-4

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