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Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.
[triple a syndrome]
Allgrove
syndrome
(
or
triple
A
syndrome
)
is
a
rare
autosomal
recessive
disorder
characterized
by
alacrima
,
achalasia
,
ACTH-resistant
adrenal
insufficiency
and
autonomic
/
neurological
abnormalities
.
It
is
caused
by
mutations
in
the
AAAS
gene
,
located
on
chromosome
12
q
13
.
We
describe
a
42
-
year
-old
patient
who
presented
with
neuropathy
and
was
found
to
have
alacrima
,
achalasia
,
mild
autonomic
dysfunction
with
significant
central
and
peripheral
nervous
system
involvement
.
She
was
later
diagnosed
with
oligosymptomatic
triple
A
syndrome
.
Sequencing
of
the
AAAS
gene
identified
two
heterozygous
mutations
within
exon
14
and
its
donor
splice
site
(
p
.
L
430
F-
c
.
1288
C
>
T
and
c
.
1331
+
1
G
>
T
)
,
one
of
which
is
novel
.
Allgrove
syndrome
should
be
suspected
in
patients
with
neurological
impairment
associated
with
two
or
more
of
the
main
symptoms
(
alacrima
,
achalasia
or
adrenal
insufficiency
)
.