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Academia Mexicana de Neurología, A.C.

2010, Número 5

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Rev Mex Neuroci 2010; 11 (5)


Enfermedad de Fabry: Evento vascular cerebral en un joven y su abordaje diagnóstico

Soto MA, Díaz RB, De los Ríos D, García-Ramos G

Idioma: Español
Referencias bibliográficas: 20
Paginas: 359-362
Archivo PDF: 122.54 Kb.


RESUMEN

Introducción: La enfermedad de Fabry representa un reto diagnóstico, particularmente en aquellos casos cuya única manifestación clínica evidente sea un evento vascular cerebral. Reporte de caso: Masculino de 24 años, que inició con cefalea bifrontal periorbitaria, evolucionó hacia la somnolencia, astenia, adinamia, con parálisis incompleta del 3er. nervio craneal izquierdo y ptosis palpebral ipsilateral. Se refirió al Instituto en dónde se documentó la presencia de córnea verticillata, angioqueratomas periumbilicales, infarto talámico y mesencefálico medial izquierdo, sin alteraciones de las funciones cardiaca y renal. Se confirmó el diagnóstico debido a la deficiencia de la enzima Alfa-Galactosidasa tipo A y se inició tratamiento sustitutivo con Fabrazyme.


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