Infantile Sandhoff's disease

Sandhoff ’s disease is a rare autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes, β-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both grey matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration. Disease progression is rapid, resulting in early death. Currently, there is no curative treatment, with therapy remaining primarily supportive. This case report is of a 13-month-old aboriginal Canadian boy who was referred for further investigations related to global developmental delay and loss of developmental milestones, at which time the diagnosis was discovered.