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

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 clini...

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Bibliographic Details
Main Authors: Ponce Camacho, Marco Antonio, Melo de la Garza, Américo, Barboza Quintana, Álvaro, Barboza Quintana, Oralia, Ancer Rodríguez, Jesús, Ramírez Bon, Enrique, Garza Alatorre, Arturo Gerardo, Rodríguez Gutiérrez, Nora Alicia
Format: Article
Language:English
Published: Masson Doyma México, S.A 2010
Online Access:http://eprints.uanl.mx/8262/1/A%20Fatal%20Case%20of%20Generalized%20Lysosomal%20Storage%20Disease.pdf
Description
Summary: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.