A rare case of Sandhoff disease: two in the same family

S. Lakshmi, G. Fatima Shirly Anitha, S. Vinoth


Sandhoff disease is a rare lysosomal storage disorder which is inherited in an autosomal recessive pattern. Prevalence of Sandhoff disease is 1 in 384000 live births. Here we report a 14 month old male child who presented with macrocephaly, regression of developmental milestones and seizures. Fundus examination showed macular cherry red spot. Enzyme studies revealed reduced levels of beta hexosaminidase A and B, following which a diagnosis of Sandhoff disease was made. Mother was offered prenatal diagnosis of the fetus in the subsequent pregnancy, which was also found to have the same enzyme deficiency and the pregnancy was medically terminated. Early identification of this neurodegenerative disorder, helped in preventing the birth of subsequent affected children in the same family, thereby reducing the burden on the family as well as the society.


Lysosomal storage disorder, Macrocephaly, Cherry red spot, Beta hexosaminidase A and B

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