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A random Abstract
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Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.
[sneddon syndrome]
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
.
