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Adrenomyeloneuropathy with bulbar palsy: A rare association.
[adrenomyeloneuropathy]
Adrenomyeloneuropathy
(
AMN
)
is
a
variant
of
adrenoleukodystrophy
(
ALD
)
,
an
X-
linked
recessive
peroxisomal
disorder
associated
with
accumulation
of
very
long
chain
fatty
acids
(
VLCFA
)
.
Mutations
of
this
gene
lead
to
abnormal
peroxisomal
β-oxidation
,
which
results
in
the
harmful
accumulation
of
VLCFAs
in
affected
cells
.
Neurological
symptoms
occur
due
to
progressive
demyelination
and
destruction
of
cerebral
white
matter
and
primary
adrenal
insufficiency
.
Bulbar
palsy
in
a
case
of
AMN
is
very
unusual
.
We
report
a
case
of
a
22
-
year
-old
male
with
AMN
who
developed
adrenal
insufficiency
at
the
age
of
4
years
successfully
treated
by
gluco-
and
mineralocorticoids
followed
by
features
of
myeloneuropathy
with
bulbar
palsy
.
AMN
with
prominent
bulbar
symptoms
emphasizes
the
diverse
clinical
manifestation
of
this
disease
.
Diseases
Validation
Diseases presenting
"destruction of cerebral white matter and primary adrenal insufficiency"
symptom
adrenomyeloneuropathy
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