Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
Diseases
Validation
Diseases presenting
"vomiting"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
congenital toxoplasmosis
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
homocystinuria without methylmalonic aciduria
kallmann syndrome
locked-in syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
primary hyperoxaluria type 1
proteus syndrome
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
This symptom has already been validated