title: Identification of Sandhoff disease in a Thai family: clinical and biochemical characterization.
abstract: 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.
authors.affiliation: Department of Pediatrics, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand. kullasait@hotmail.com
authors.forename: Kullasate
authors.initials: K
authors.lastname: Sakpichaisakul
authors.forename: Pairat
authors.initials: P
authors.lastname: Taeranawich
authors.forename: Achara
authors.initials: A
authors.lastname: Nitiapinyasakul
authors.forename: Todsaporn
authors.initials: T
authors.lastname: Sirisopikun
mesh_terms: 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
chemical_list: D006596:Hexosaminidases