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. (C) 2000 Elsevier Science B.V.
Parmeggiani Antonia, Posar A., De Giorgi L.B., Sangiorgi S., Mochi M., Monari Lucia, et al. (2000). Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. BRAIN & DEVELOPMENT, 22(6), 390-393 [10.1016/S0387-7604(00)00157-1].
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter
Parmeggiani Antonia;Posar A.;De Giorgi L. B.;Sangiorgi S.;Mochi M.;Patrizi Annalisa;Giovanardi Rossi Paola.
2000
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. (C) 2000 Elsevier Science B.V.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
