Sandhoff disease--a case report of 3 siblings and a review of potential therapies.
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.
Tay
S K
SK
Department of Paediatrics, National University Hospital, Singapore.
Low
P S
PS
Ong
H T
HT
Loke
K Y
KY
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
D001619:beta-N-Acetylhexosaminidases