A Fatal Case of Generalized Lysosomal Storage Disease in an Infant.

Ponce Camacho, Marco Antonio y Melo de la Garza, Américo y Barboza Quintana, Álvaro y Barboza Quintana, Oralia y Ancer Rodríguez, Jesús y Ramírez Bon, Enrique y Garza Alatorre, Arturo Gerardo y Rodríguez Gutiérrez, Nora Alicia (2010) A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. Medicina Universitaria, 12 (46). pp. 59-63. ISSN 1665-5796 (Entregado)

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Resumen

Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons. This condition causes a progressive neurodegenerative disorder with varied clinical presentations. Depending on the severity of the enzymatic defect, gangliosidoses show different rates of clinical progression and organ involvement; poor residual enzyme activity is seen in more aggressive forms (infantile and juvenile subtypes) leading to early death whereas cases with better residual enzyme activity have a late onset in adult life and a milder clinical course. Autopsy findings of a 7 month-old girl with histological and ultrastructural changes consistent with gangliosidosis are presented.

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