Ischemic stroke in a young patient due to protein S deficiency in the context of muscular dystrophy - case report
Ischemic stroke in a young patient due to protein S deficiency in the context of muscular dystrophy - case report
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Mujer de 19 años con historia de 6 años de evolución consistente en caídas frecuentes y debilidad debido a la pérdida de fuerza en los miembros inferiores. Durante las últimas 10 horas, presentó un episodio repentino de hemiplejia izquierda, desviación de la comisura labial a la derecha, disartria y cuatro episodios eméticos. Ella fue diagnosticada con accidente cerebrovascular isquémico causado por una deficiencia de la proteína S y además con distrofia muscular. Este reporte de caso puede indicar una relación entre la distrofia muscular y el accidente cerebrovascular isquémico causado por una deficiencia de proteína S.
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2. Boehme, Amelia K.; Esenwa, Charles; Elkind, Mitchell SV. Stroke risk factors, genetics, and prevention. Circulation research, 2017, vol. 120, no 3, p. 472-495. https://doi.org/10.1161/CIRCRESAHA.116.308398
3. Maaijwee, Noortje Amm, et al. Ischaemic stroke in young adults: risk factors and long-term consequences. Nature Reviews Neurology, 2014, vol. 10, no 6, p. 315. https://doi.org/10.1038/nrneurol.2014.72
4. O'donnell, Martin J., et al. Risk factors for ischaemic and intracerebral haemorrhagic stroke in 22 countries (the INTERSTROKE study): a case-control study. The Lancet, 2010, vol. 376, no 9735, p. 112-123. https://doi.org/10.1016/S0140-6736(10)60834-3
5. Rolfs, Arndt, et al. Acute cerebrovascular disease in the young. Stroke, 2013, vol. 44, no 2, p. 340-349. https://doi.org/10.1161/STROKEAHA.112.663708
6. Putaala J, Metso AJ, Metso TM, Konkola N, Kraemer Y, Haapaniemi E, et al. Analysis of 1008 consecutive patients aged 15 to 49 with first-ever ischemic stroke: the Helsinki young stroke registry. Stroke. 2009; 40:1195–1203 https://doi.org/10.1161/STROKEAHA.108.529883
7. Zamora-González, Yaneth; Agramonte-Llanes, Olga M.; Rodríguez-Pérez, Loreta. Deficiencia de proteínas C y S: marcadores de riesgo trombótico. Revista cubana de hematología, inmunología y hemoterapia, 2013, vol. 29, no 1, p. 40-47.
8. Lietz K, Kuchling SE, Parkhurst JB. Hemorrhagic stroke in a child whit protein S and factor VII deficiencies. Pediatr Neurol. 2005 Mar;32(3):208-10. https://doi.org/10.1016/j.pediatrneurol.2004.08.008
9. Emery, Alan eh. The muscular dystrophies. The lancet, 2002, vol. 359, no 9307, p. 687-695. https://doi.org/10.1016/S0140-6736(02)07815-7
10. Ryder, S., et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis, 2017, vol. 12, no 1, p. 79.
https://doi.org/10.1186/s13023-017-0631-3
11. Dorman, Guido, et al. Ataque cerebrovascular cardioembólico en paciente con distrofia muscular. Neurología Argentina, 2016, vol. 8, no 2, p. 118-121. https://doi.org/10.1016/j.neuarg.2015.10.001
12. Ferro, José M.; Massaro, Ayrton R.; MAS, Jean-Louis. Aetiological diagnosis of ischaemic stroke in young adults. Lancet Neurol., 2010, vol. 9, no 11, p. 1085-1096. https://doi.org/10.1016/S1474-4422(10)70251-9
13. Hollenhorst, Marie A.; Battinelli, Elisabeth M. Thrombosis, Hypercoagulable States, and Anticoagulants. Primary Care: Clinics in Office Practice, 2016, vol. 43, no 4, p. 619-635. https://doi.org/10.1016/j.pop.2016.07.001
14. Anderson, Julia AM; Weitz, Jeffrey I. Hypercoagulable states. Clin. Chest Med., 2010, vol. 31, no 4, p. 659-673. https://doi.org/10.1016/j.ccm.2010.07.004
15. Mercuri, Eugenio; Muntoni, Francesco. Muscular dystrophies. The Lancet, 2013, vol. 381, no 9869, p. 845-860. https://doi.org/10.1016/S0140-6736(12)61897-2
16. Cobos, Everardo; Phy, Michael; Keung, Yi Kong. Thrombotic risk of muscular dystrophy: protein C deficiency, factor V Leiden, and myotonic dystrophy. Clinical and Applied Thrombosis/Hemostasis, 1999, vol. 5, no 3, p. 185-186. https://doi.org/10.1177/107602969900500308