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Neurologic presentation of triple A syndrome.
[triple a syndrome]
"
Triple
A
"
syndrome
is
a
rare
,
autosomal
recessive
condition
whose
main
clinical
features
are
alacrima
,
achalasia
,
and
adrenal
failure
.
Most
patients
also
develop
some
neurologic
abnormalities
.
We
describe
an
11
-
year
-old
boy
with
triple
A
syndrome
who
presented
with
progressive
axonal
motor
neuropathy
.
Molecular
analysis
revealed
compound
heterozygous
mutations
in
the
AAAS
gene
,
confirming
the
clinical
diagnosis
.
The
clinical
presentation
of
patients
with
triple
A
syndrome
is
variable
.
Our
patient
manifested
neurologic
problems
during
early
childhood
,
before
other
features
of
this
condition
were
apparent
.
We
highlight
the
neurologic
presentation
of
this
multisystem
disorder
.
In
the
presence
of
complex
axonal
neuropathy
,
other
features
of
this
condition
should
be
sought
.