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Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
is
a
genetically
determined
disorder
that
causes
varying
degrees
of
malfunction
of
the
adrenal
cortex
and
central
nervous
system
.
Our
aim
was
to
investigate
the
occurrence
of
known
,
or
new
,
mutations
in
the
ABCD
1
gene
in
two
unrelated
patients
with
clinical
suspicion
of
the
adrenoleukodystrophy
.
Methods
:
Two
unrelated
patients
-
the
first
with
behavioral
changes
,
the
second
with
progressive
cognitive
deficit
-
underwent
a
clinical
and
genetic
examination
in
order
to
establish
a
diagnosis
and
discover
a
possible
mutation
.
Results
:
In
the
first
patient
,
a
47
year
old
man
,
the
clinical
examination
showed
dementia
of
the
frontal
type
and
spastic
quadriparesis
.
The
patient
also
suffered
from
adrenal
insufficiency
for
6
years
.
An
MRI
showed
confluent
hyperintensive
lesions
in
FLAIR
images
in
the
frontal
lobe
of
both
hemispheres
.
The
second
patient
,
a
16
year
old
boy
,
suffered
also
from
Addison
's
disease
since
the
age
of
9
,
and
developed
cognitive
deficit
in
the
course
of
one
year
.
The
MRI
showed
posterior
atrophy
and
hyperintensive
lesions
in
parietal
and
occipital
lobes
in
T
2
WI
.
In
both
cases
,
genetic
analyses
showed
a
missense
mutation
at
the
codon
887
(
A
>
G
)
in
exon
1
of
the
ABCD
1
gene
,
predicting
the
substitution
Y
296
C
in
the
ALD
protein
.
Conclusion
:
We
detected
the
same
mutation
of
the
ABCD
1
gene
in
two
unrelated
patients
with
ALD
.
In
the
first
case
there
was
frontal
lobe
involvement
,
in
the
second
case
parieto-
occipital
involvement
.
Both
pathologic
involvement
and
clinical
presentation
differed
in
two
cases
of
the
same
mutation
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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