Tay-Sachs Disease 환자의 전신마취 경험

• Published in: Korean journal of anesthesiology Vol. 52; no. 1; pp. 107 - 110
• Main Authors: 김성수, Seong Su Kim, 조석주, Suk Ju Cho, 정화성, Hwa Sung Jung
• Format: Journal Article
• Language: Korean
• Published: 대한마취통증의학회(구 대한마취과학회) 01.01.2007; 대한마취통증의학회
• Subjects: GM2 gangliosidosis; hexosaminidase; Lysosomal glycosphingolipid storage disease; Tay-Sachs Disease; 마취과학
• ISSN: 2005-6419; 2005-7563

Tay-Sachs Disease (TSD), the most common form of GM2 gangliosidosis, is an autosomal recessive inborn lysosomal glycosphingolipid storage disease which is resulted from the mutations that affect the α-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. (Korean J Anesthesiol 2007; 52: 107~10)