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Carotid artery dissection in Hutchinson-Gilford Progeria: a case report by González-Maestro, Víctor (author);Monteagudo-Vilavedra, Einés (author);Rodríguez-Antuña, Jorge (author);Lendoiro-Fuentes, Marta (author);Gómez, María Soledad Brage (author);Miño, Elena Maside (author) is a Medicine article available to read on EtoBox.

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## Abstract ## Background Strokes in the paediatric age group have their own epidemiology and aetiology and are frequently misdiagnosed. As in the adult population, they present some risk factors that must be identified. Cerebral arteriopathies as a cause of paediatric ischaemic stroke present a very diverse aetiology and morphology. In this article we report a paediatric stroke in a patient who was diagnosed during his first months of life of Hutchinson-Gilford ́s Progeria (HGP). This is a rare genetic condition caused by mutations in the LMNA gene, producing an aberrant lamin A protein. The disease leads to premature aging, and cardiovascular complications are the first cause of morbidity and mortality in these patients. ## Case presentation We report the case of a 5-year-old patient with HGP (missense mutation—de novo—c.1822G > A in heterozygosis, LMNA gene). The patient was diagnosed during his first year of life and presented distinct phenotypical features. No other relevant comorbidities were present. He was admitted to the emergency department for right hemiparesis with at least 4 h of evolution, with inability to open the hand and slight decrease in the level of consciousne

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Author

González-Maestro, Víctor (author);Monteagudo-Vilavedra, Einés (author);Rodríguez-Antuña, Jorge (author);Lendoiro-Fuentes, Marta (author);Gómez, María Soledad Brage (author);Miño, Elena Maside (author)

Publisher

Springer Science and Business Media LLC

Published

2022

Language

EN

Field

Medicine (Health Sciences)