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

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 cerebrovascul...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Arterial tortuosity syndrome Transient ischemic attack Thrombolysis Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/eca13067a4fc474fba4f41b3d809505b
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spelling	oai:doaj.org-article:eca13067a4fc474fba4f41b3d809505b2021-12-05T12:08:56ZArterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report10.1186/s12883-021-02458-41471-2377https://doaj.org/article/eca13067a4fc474fba4f41b3d809505b2021-11-01T00:00:00Zhttps://doi.org/10.1186/s12883-021-02458-4https://doaj.org/toc/1471-2377Abstract 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.Stefano Cotti PiccinelliEnrico PremiSonia BonacinaNicola GilbertiVeronica VerganiMassimo GambaRaffaella SpeziIlenia DelrioMichaël BernierAngelo CostaMarco RavanelliMarina ColombiRoberto GasparottiAlessandro PadovaniMauro MagoniBMCarticleArterial tortuosity syndromeTransient ischemic attackThrombolysisNeurology. Diseases of the nervous systemRC346-429ENBMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Arterial tortuosity syndrome Transient ischemic attack Thrombolysis Neurology. Diseases of the nervous system RC346-429
spellingShingle	Arterial tortuosity syndrome Transient ischemic attack Thrombolysis Neurology. Diseases of the nervous system RC346-429 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 Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
description	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.
format	article
author	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
author_facet	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
author_sort	Stefano Cotti Piccinelli
title	Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
title_short	Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
title_full	Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
title_fullStr	Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
title_full_unstemmed	Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
title_sort	arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report
publisher	BMC
publishDate	2021
url	https://doaj.org/article/eca13067a4fc474fba4f41b3d809505b
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Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report

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