Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization.
نویسندگان
چکیده
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.
منابع مشابه
Ocular pathology of GM2 gangliosidosis--Type 2 (Sandhoff's disease).
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ورودعنوان ژورنال:
- Journal of the Medical Association of Thailand = Chotmaihet thangphaet
دوره 93 9 شماره
صفحات -
تاریخ انتشار 2010