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Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
[triple a syndrome]
The
triple
A
syndrome
is
a
rare
autosomal
recessive
disease
that
is
characterised
by
the
triad
of
adrenocorticotropin
(
ACTH
)
-
resistant
adrenal
insufficiency
,
achalasia
and
alacrima
.
In
most
patients
,
neurological
and
dermatological
abnormalities
are
associated
features
.
We
report
on
the
first
Bosnian
patient
with
triple
A
syndrome
.
Endocrine
investigation
confirmed
primary
adrenal
insufficiency
at
the
age
of
5
.
8
years
.
Two
months
later
,
achalasia
was
diagnosed
,
and
in
the
presence
of
alacrima
,
the
patient
satisfies
the
diagnostic
criteria
of
triple
A
syndrome
.
In
addition
,
a
large
number
of
associated
neurological
and
dermatological
features
were
present
in
this
patient
.
Moreover
,
he
has
dysmorphic
facial
features
,
which
have
not
been
previously
described
in
triple
A
syndrome
.
Triple
A
syndrome
was
confirmed
by
molecular
analysis
,
revealing
a
nonsense
mutation
p
.
W
84
X
in
the
AAAS
gene
.
The
parents
are
both
heterozygous
carriers
of
the
mutation
.
The
affected
twin
brother
unfortunately
died
from
hypoglycaemic
shock
,
despite
a
normal
cortisol
rise
in
an
ACTH
stimulation
test
.
Further
,
triple
A
syndrome
patients
carrying
the
identical
homozygous
p
.
W
84
X
mutation
have
to
be
studied
to
assess
a
genotype-phenotype
relationship
for
this
mutation
.
Diseases
Validation
Diseases presenting
"identical homozygous p"
symptom
triple a syndrome
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