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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
"late onset"
symptom
adrenomyeloneuropathy
cadasil
canavan disease
congenital adrenal hyperplasia
cowden syndrome
cutaneous mastocytosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
thoracic outlet syndrome
triple a syndrome
zellweger syndrome
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