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 Áncer 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.

Tipo de elemento: Article
Palabras claves no controlados: Gangliosidoses, lysosomal storage disease, Metabolic neurodegenerative disorders.
Divisiones: Medicina
Usuario depositante: Lic. Jesús E. Alvarado
Creadores:
CreadorEmailORCID
Ponce Camacho, Marco AntonioNO ESPECIFICADONO ESPECIFICADO
Melo de la Garza, AméricoNO ESPECIFICADONO ESPECIFICADO
Barboza Quintana, ÁlvaroNO ESPECIFICADONO ESPECIFICADO
Barboza Quintana, OraliaNO ESPECIFICADONO ESPECIFICADO
Áncer Rodríguez, JesúsNO ESPECIFICADONO ESPECIFICADO
Ramírez Bon, EnriqueNO ESPECIFICADONO ESPECIFICADO
Garza Alatorre, Arturo GerardoNO ESPECIFICADONO ESPECIFICADO
Rodríguez Gutiérrez, Nora AliciaNO ESPECIFICADONO ESPECIFICADO
Fecha del depósito: 10 Dic 2015 00:49
Última modificación: 17 Feb 2016 16:57
URI: http://eprints.uanl.mx/id/eprint/8262

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