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Intra familial phenotypical variations in adrenoleukodystrophy.
[adrenomyeloneuropathy]
Adrenoleukodystrophy
(
ALD
)
is
an
X-
linked
recessively
inherited
peroxisomal
disorder
,
characterized
by
progressive
white
-matter
demyelination
of
the
central
nervous
system
and
adrenocortical
insufficiency
.
It
has
a
wide
phenotypical
variability
ranging
from
symptomatic
childhood
cerebral
form
to
the
asymptomatic
with
biochemical
defects
only
;
sometimes
within
the
same
family
.
We
report
a
family
of
three
siblings
diagnosed
with
ALD
confirmed
with
the
mutations
in
ABCD
1
gene
having
phenotypical
variability
ranging
from
pure
adrenal
insufficiency
to
progressive
neurodegeneration
in
the
same
family
.
The
mother
was
identified
as
the
carrier
and
maternal
uncle
was
diagnosed
with
Adrenomyeloneuropathy
.
We
discuss
the
variable
presentation
in
our
family
and
the
possible
causes
of
phenotypical
variability
.
Diseases
Validation
Diseases presenting
"inherited peroxisomal disorder"
symptom
adrenomyeloneuropathy
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