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Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization

Sakpichaisakul, K.; Taeranawich, P.; Nitiapinyasakul, A.; Sirisopikun, T.

Journal of the Medical Association of Thailand 93(9): 1088-1092

2010

ISSN/ISBN: 0125-2208
PMID: 20873083
Document Number: 12983
Sandhoff disease is a GM2 gangliosidosis that is rare in Thailand. The authors report a Thai family with two children known to have infantile form of Sandhoff disease. The index case exhibited mitral valve prolapse with mitral regurgitation as an early sign, which is a rare presentation in Sandhoff disease. Thereafter the patient had developmental regression, startle reaction, and cherry red spots. The diagnosis was confirmed by biochemical analysis.

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Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization

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