Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization.
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.
Sakpichaisakul
Kullasate
K
Department of Pediatrics, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand. kullasait@hotmail.com
Taeranawich
Pairat
P
Nitiapinyasakul
Achara
A
Sirisopikun
Todsaporn
T
D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006349:Heart Valve Diseases / Q000209:etiology*; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012497:Sandhoff Disease / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D012640:Seizures / Q000209:etiology / Q000235:genetics; D013661:Tay-Sachs Disease / Q000097:blood / Q000175:diagnosis*; D014786:Vision Disorders / Q000209:etiology / Q000235:genetics
D006596:Hexosaminidases