| An Anesthetic Experience in a Patient with Tay-Sachs Disease : A case report. |
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Seong su Kim, Suk ju Cho, Hwa sung Jung |
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Department of Anesthesiology and Pain Medicine, Gangneung Asan Hospital, College of Medicine, University of Ulsan, Gangneung, Korea. sskim@gnah.co.kr |
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| Abstract |
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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. |
| Key Words:
GM(2) gangliosidosis; hexosaminidase; lysosomal glycosphingolipid storage disease; Tay-Sachs Disease |
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