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Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation.
[triple a syndrome]
Triple
A
syndrome
is
a
rare
autosomal
recessive
inherited
disorder
which
is
characterized
by
alacrima
,
adrenal
insufficiency
,
and
achalasia
.
We
report
on
a
14
-
year
old
girl
with
dysphagia
,
regurgitation
,
and
vomiting
since
5
years
.
At
the
age
of
five
years
an
Addison
crisis
was
diagnosed
and
cortisone
substitution
was
initiated
.
In
addition
,
the
patient
had
episodes
of
conjunctivitis
.
Severe
esophagitis
and
candida
infection
were
diagnosed
by
esophago-gastro-duodenoscopy
and
treated
with
omeprazole
and
fluconazole
.
The
esophageal
barium
swallow
was
typical
for
achalasia
.
Medical
treatment
of
achalasia
with
oral
nifedipine
resulted
only
in
a
partial
and
temporal
improvement
.
But
after
seven
balloon
dilatations
dysphagia
and
nocturnal
coughing
improved
clearly
and
a
remarkable
gain
of
weight
could
be
seen
.
Direct
sequencing
showed
a
homozygous
nonsense
mutation
in
exon
11
of
the
AAAS
gene
leading
to
truncation
at
position
342
of
the
546
amino
acid
protein
.
T
riple
A
syndrome
has
to
be
considered
in
patients
with
dysphagia
.
In
our
patient
,
the
absence
of
tears
since
birth
followed
by
adrenal
insufficiency
were
early
signs
of
the
triple
A
syndrome
.
Balloon
dilatation
of
the
esophago-
gastric
junction
is
an
effective
treatment
,
which
can
avoid
surgical
interventions
.