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Neurological features in adult Triple-A (Allgrove) syndrome.
[triple a syndrome]
Triple-
A
or
Allgrove
syndrome
is
a
rare
multisystem
disease
classically
associated
with
esophageal
achalasia
,
adrenal
insufficiency
and
alacrima
.
Here
,
we
describe
the
poorly
understood
neurological
characteristics
often
associated
with
this
condition
,
through
the
clinical
and
electrophysiological
analysis
of
eight
patients
.
All
patients
were
genetically
confirmed
and
had
a
mutation
in
the
ALADIN
gene
.
They
all
displayed
a
classical
picture
of
Triple-
A
syndrome
:
all
suffered
from
achalasia
and
alacrima
and
half
of
them
from
adrenal
insufficiency
.
However
,
all
harbored
a
neurological
picture
characterized
by
a
recognizable
pattern
of
peripheral
neuropathy
.
Other
neurological
features
included
cognitive
deficits
,
pyramidal
syndrome
,
cerebellar
dysfunction
,
dysautonomia
,
neuro-ophthalmological
signs
and
bulbar
and
facial
symptoms
.
This
neurological
picture
was
prominent
in
all
patients
and
misled
the
initial
diagnosis
in
six
of
them
,
which
had
a
late
onset
.
We
then
review
the
previous
neurological
reports
of
this
disease
,
to
improve
the
understanding
of
this
rare
condition
.
Diagnosis
of
late-onset
Triple-
A
syndrome
is
difficult
when
the
clinical
picture
is
mainly
neurological
and
when
endocrine
or
gastrointestinal
signs
are
minor
.
The
characteristics
of
the
peripheral
neuropathy
,
among
other
neurological
signs
,
can
be
of
help
.
Diseases
Validation
Diseases presenting
"cerebellar dysfunction"
symptom
erdheim-chester disease
krabbe disease
locked-in syndrome
triple a syndrome
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