Abstract
Summary: Juvenile Sandhoff disease (McKusick 268800) is a rare lysosomal storage disorder with only 12 cases recorded in the literature. This condition is also referred to as the subacute form of hexosaminidase deficiency. We describe 9 new cases of Pakistani origin and compare these with the other published cases. Ataxia and speech abnormalities were the commonest presentation. Constipation and urinary incontinence were frequent and may be due to autonomic neuropathy. Cherry-red spot was not noted in any of our cases. Increased lower limb reflexes were the commonest physical finding. Significant delay in diagnosis may be due to the nonspecific presentation of this condition. Diagnosis was on the basis of hexosaminidase deficiency. Residual enzyme activity did not correlate with the clinical picture. Emerging therapies make early diagnosis of this disorder important.
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Hendriksz, C.J., Corry, P.C., Wraith, J.E. et al. Juvenile Sandhoff disease—Nine new cases and a review of the literature. J Inherit Metab Dis 27, 241–249 (2004). https://doi.org/10.1023/B:BOLI.0000028777.38551.5a
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DOI: https://doi.org/10.1023/B:BOLI.0000028777.38551.5a