title: Sandhoff disease--a case report of 3 siblings and a review of potential therapies.
abstract: BACKGROUND
  Sandhoff disease is a GM2 gangliosidosis that may present within the first 6 months of life with developmental regression. This is the first report of a pedigree from Southeast Asia.
  
  
  METHODS
  All the affected siblings presented in the first year of life with developmental regression, spasticity, seizures and loss of vision. The diagnosis was confirmed by an enzymatic deficiency in both beta-hexosaminidase A and B.
  
  
  CONCLUSIONS
  As the disorder is autosomal recessive, and no curative therapy is currently available, genetic counselling is necessary to prevent the burden of this devastating disease. We review the potential strategies of treatment for Sandhoff disease.
authors.affiliation: Department of Paediatrics, National University Hospital, Singapore.
authors.forename: S K
authors.initials: SK
authors.lastname: Tay
authors.forename: P S
authors.initials: PS
authors.lastname: Low
authors.forename: H T
authors.initials: HT
authors.lastname: Ong
authors.forename: K Y
authors.initials: KY
authors.lastname: Loke
mesh_terms: D002675:Child, Preschool; D002681:China; D002658:Developmental Disabilities / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D015316:Genetic Therapy; D006801:Humans; D007223:Infant; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010375:Pedigree; D012497:Sandhoff Disease / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D012640:Seizures / Q000235:genetics; D014786:Vision Disorders / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency / Q000235:genetics
chemical_list: D001619:beta-N-Acetylhexosaminidases