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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
.
Diseases
Validation
Diseases presenting
"early childhood"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
erythropoietic protoporphyria
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
papillon-lefèvre syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
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