Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.
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.
Parmeggiani
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A
Department of Child Neurology and Psychiatry, Neurological Institute, University of Bologna, via Ugo Foscolo 7, 40123, Bologna, Italy. parmeggi@alma.unibo.it
Posar
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A
De Giorgi
L B
LB
Sangiorgi
S
S
Mochi
M
M
Monari
L
L
Patrizi
A
A
Rossi
P G
PG
D002540:Cerebral Cortex / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D018450:Disease Progression; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D010375:Pedigree; D012867:Skin / Q000473:pathology; D018860:Sneddon Syndrome / Q000235:genetics / Q000473:pathology*