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An Anesthetic Experience in a Patient with Tay-Sachs Disease : A case report / 대한마취과학회지
Korean Journal of Anesthesiology ; : 107-110, 2007.
Artículo en Coreano | WPRIM | ID: wpr-113471
ABSTRACT
Tay-Sachs Disease (TSD), the most common form of GM(2) gangliosidosis, is an autosomal recessive inborn lysosomal glycosphingolipid storage disease which is resulted from the mutations that affect the alpha-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. It is characterized by normal motor development in the first few months of life, followed by progressive weakness and loss of motor skills beginning around 6 months of life. Neurodegeneration is relentless and manifested as relentless motor and mental deterioration, beginning with motor incoordination, mental obtundation leading to muscular flaccidity, blindness, and increasing dementia, with death occurring by the age of 4 or 5 years. We report a successful anesthetic management in a patient with Tay-Sachs Diseases for tracheostomy and feeding gastrostomy.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Ataxia / Enfermedad de Tay-Sachs / Cromosomas Humanos Par 15 / Traqueostomía / Gastrostomía / Ceguera / Gangliosidosis / Demencia / Hexosaminidasa A / Hexosaminidasas Límite: Humanos Idioma: Coreano Revista: Korean Journal of Anesthesiology Año: 2007 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Ataxia / Enfermedad de Tay-Sachs / Cromosomas Humanos Par 15 / Traqueostomía / Gastrostomía / Ceguera / Gangliosidosis / Demencia / Hexosaminidasa A / Hexosaminidasas Límite: Humanos Idioma: Coreano Revista: Korean Journal of Anesthesiology Año: 2007 Tipo del documento: Artículo