ABSTRACT
Introduction: 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.
Clinical Picture: 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 β-hexosaminidase A and B. Conclusion: 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.Sandhoff disease is a rare inborn error of metabolism characterised by the absence of both β-hexosaminidase A and B, resulting in an accumulation of G<sub>M2</sub> gangliosides, particularly in the neuronal cells. The infantile form, similar to Tay Sach’s disease, may present in the first year of life with an exaggerated response to loud noises, delay or loss of developmental milestones and loss of visual attentiveness.
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