Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter
A Parmeggiani1, A Posar, L B De Giorgi
1Department of Child Neurology and Psychiatry, Neurological Institute, University of Bologna, via Ugo Foscolo 7, 40123, Bologna, Italy. parmeggi@alma.unibo.it
Abstract:
We describe a 11 year-old-boy with Sneddon syndrome, confirmed by skin biopsy, and MR evidence of diffuse cerebral hyperintensity of white matter; he also suffered from pre-perinatal hypoxic-ischemic distress. Arylsulfatase A activity was found reduced because of arylsulfatase A pseudodeficiency. We suggest that the association of pre-perinatal distress, Sneddon syndrome and arylsulfatase A pseudodeficiency is responsible for the diffuse impairment of cerebral white matter, never reported in Sneddon syndrome and similar to described cases of delayed posthypoxic demyelination and arylsulfatase A pseudodeficiency.
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