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A random Abstract
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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
"a 16 year old boy"
symptom
x-linked adrenoleukodystrophy
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