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Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.
[triple a syndrome]
A
38
-
year
-old
male
patient
was
admitted
with
slowly
progressive
spastic
gait
disturbance
.
Imaging
revealed
general
spinal
cord
atrophy
.
Because
of
adrenal
insufficiency
,
alacrima
and
achalasia
,
triple
A
syndrome
was
suspected
.
This
is
a
case
report
of
a
triple
A
syndrome
patient
with
a
predominance
of
neurological
features
and
a
new
heterozygous
compound
mutation
in
triple
A
syndrome
gene
.