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2016, Número 2

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Rev Mex Pediatr 2016; 83 (2)


Deficiencia de lipasa ácida lisosomal. Reporte de dos casos

Carbajal-Rodríguez L

Idioma: Español
Referencias bibliográficas: 57
Paginas: 49-54
Archivo PDF: 236.70 Kb.


RESUMEN

La deficiencia de lipasa ácida lisosomal es un padecimiento donde se acumulan ésteres del colesterol y triglicéridos en los lisosomas de diversos tejidos como el hígado, bazo y corazón, por lo que se considera que es una enfermedad multisistémica. Es una condición hereditaria, autosómica recesiva, de la cual se han descrito muy pocos casos a nivel mundial. En este reporte se exponen dos hermanos de una misma familia mexicana con deficiencia de lipasa ácida lisosomal, en quienes las manifestaciones de la afección fueron muy distintas. El caso del varón, de cuatro años nueve meses, tuvo una presentación temprana con involucro del corazón (miocardiopatía dilatada) y hepatoesplenomegalia desde corta edad, mientras que su hermana se detectó a los 15 años, siendo totalmente asintomática, pero con hepatomegalia. En ambos casos se confirmaron las alteraciones en lípidos séricos, la deficiencia de la enzima, así como la mutación correspondiente a dicha deficiencia enzimática.


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