Identification of Sandhoff Disease in a Thai Family: Clinical and Biochemical Characterization
Kullasate Sakpichaisakul MD*, Pairat Taeranawich MD*, Achara Nitiapinyasakul MD**, Todsaporn Sirisopikun MD*
Affiliation : * Department of Pediatrics, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand ** Department of Ophthalmology, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand
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
