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Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.
[x-linked adrenoleukodystrophy]
Zellweger
spectrum
disorder
is
an
autosomal
recessively
inherited
multisystem
disorder
caused
by
one
of
the
13
different
PEX
gene
defects
resulting
in
defective
peroxisomal
assembly
and
multiple
peroxisomal
enzyme
deficiencies
.
We
report
a
new
patient
with
late-onset
Zellweger
spectrum
disorder
mimicking
X-
linked
adrenoleukodystrophy
.
T
his
8
.
5
-
year
-old
boy
with
normal
development
until
6
.
5
years
of
age
presented
with
bilateral
sensorineural
hearing
loss
during
a
school
hearing
test
.
He
then
developed
acute
-onset
diplopia
,
clumsiness
,
and
cognitive
dysfunction
at
age
7
years
.
Magnetic
resonance
imaging
of
the
brain
revealed
symmetric
leukodystrophy
,
although
without
gadolinium
enhancement
.
Elevated
plasma
very
long
chain
fatty
acid
levels
were
suggestive
of
X-
linked
adrenoleukodystrophy
,
but
his
ABCD
1
gene
had
normal
coding
sequence
and
dosage
.
Additional
studies
of
cultured
skin
fibroblasts
were
consistent
with
Zellweger
spectrum
disorder
.
Molecular
testing
identified
disease-causing
compound
heterozygous
mutations
in
the
PEX
6
gene
supporting
the
Zellweger
spectrum
disorder
diagnosis
in
this
patient
.
We
describe
a
new
patient
with
late-onset
Zellweger
spectrum
disorder
caused
by
PEX
6
mutations
who
presented
with
an
acute
neurodegenerative
disease
course
mimicking
X-
linked
adrenoleukodystrophy
.
This
finding
provides
an
additional
reason
that
molecular
confirmation
is
important
for
the
genetic
counseling
and
management
of
patients
with
a
clinical
and
biochemical
diagnosis
of
X-
linked
adrenoleukodystrophy
.
Diseases
Validation
Diseases presenting
"skin fibroblasts"
symptom
child syndrome
cowden syndrome
cystinuria
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
krabbe disease
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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