Identification of sandhoff disease in a Thai family: Clinical and biochemical characterization

Department of Pediatrics, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand.
Journal of the Medical Association of Thailand = Chotmaihet thangphaet 09/2010; 93(9):1088-92.
Source: PubMed


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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