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Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.
[lamellar ichthyosis]
Sjogren-
Larsson
syndrome
(
SLS
)
is
characterized
by
the
triad
of
ichthyosis
,
mental
retardation
,
and
spastic
diplegia
or
quadriplegia
.
The
hallmark
of
SLS
is
ichthyosis
.
We
report
a
case
and
review
the
major
differential
diagnosis
of
SLS
.
A
21
-
year
-old
woman
presented
with
seizures
,
mental
retardation
,
spastic
diplegia
,
and
ichthyosis
since
birth
.
Computed
tomography
scan
revealed
hypodense
areas
in
the
periventricular
white
matter
.
Skin
biopsy
demonstrated
a
lamellar
ichthyosis
.
These
findings
were
compatible
with
SLS
.
W
hen
ichthyosis
is
associated
with
spasticity
and
mental
retardation
,
one
should
consider
SLS
.
If
hypogonadism
,
ataxia
,
retinitis
,
cardiomyopathy
,
or
dwarfism
is
present
,
other
diagnosis
rather
than
SLS
should
be
investigated
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated