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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated