Rare Diseases Symptoms Automatic Extraction
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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
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
