Korean J Anesthesiol.  2007 Jan;52(1):107-110. 10.4097/kjae.2007.52.1.107.

An Anesthetic Experience in a Patient with Tay-Sachs Disease : A case report

• Kim SS
• Cho SJ
• Jung HS

• KMID: 2236653
• DOI: http://doi.org/10.4097/kjae.2007.52.1.107

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.

Keyword

GM(2) gangliosidosis; hexosaminidase; lysosomal glycosphingolipid storage disease; Tay-Sachs Disease

MeSH Terms

Ataxia
Blindness
Chromosomes, Human, Pair 15
Dementia
Gangliosidoses
Gastrostomy
Hexosaminidase A
Hexosaminidases
Humans
Motor Skills
Muscle Hypotonia
Tay-Sachs Disease*
Tracheostomy
Hexosaminidase A
Hexosaminidases