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Case ReportOpen Access
Identification of Sandhoff Disease in a Thai Family: Clinical and Biochemical Characterization
Sakpichaisakul K 
,
Taeranawich P ,
Nitiapinyasakul A ,
Sirisopikun T
,
Taeranawich P ,
Nitiapinyasakul A ,
Sirisopikun T 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.
Keywords: Infantile sandhoff disease, Cherry red spot, Mitral valve prolapse
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.
Keywords: Infantile sandhoff disease, Cherry red spot, Mitral valve prolapse
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