Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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An unusual presentation of juvenile Alexander disease.
[alexander disease]
Alexander
disease
is
a
rare
leukodystrophy
that
most
often
presents
in
infancy
but
also
includes
neonatal
,
juvenile
,
and
adult
variants
.
Juvenile
Alexander
disease
presents
primarily
with
bulbar
symptoms
between
2
and
12
years
of
age
.
The
diagnosis
is
often
suggested
by
the
clinical
course
and
brain
magnetic
resonance
image
pattern
and
then
confirmed
by
the
presence
of
a
mutation
in
the
glial
fibrillary
acidic
protein
gene
.
A
young
girl
presented
with
globus
sensation
and
magnetic
resonance
imaging
of
the
brain
revealed
abnormalities
mainly
involving
white
matter
tracts
of
the
medulla
oblongata
and
cerebellum
.
The
presence
of
a
mutation
in
the
glial
fibrillary
acidic
protein
gene
confirmed
the
diagnosis
of
juvenile
Alexander
disease
.
A
high
index
of
clinical
suspicion
is
necessary
for
the
diagnosis
of
late-onset
presentations
of
Alexander
disease
.
