Case Reports
Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization
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Case Reports
Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization
J Med Assoc Thai.
2010 Sep.
Abstract
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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