Rare Diseases Symptoms Automatic Extraction
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Focal central white matter lesions in Alexander disease.
[alexander disease]
Alexander
disease
is
a
neurodegenerative
disorder
of
the
central
white
matter
caused
by
dominant
mutations
in
GFAP
,
the
gene
encoding
glial
fibrillary
acidic
protein
.
Magnetic
resonance
imaging
pattern
recognition
studies
have
established
characteristic
radiologic
phenotypes
for
this
disorder
.
In
some
cases
,
however
,
genetically
confirmed
cases
do
not
express
these
features
,
and
several
reports
have
identified
"
atypical
"
radiologic
findings
in
Alexander
disease
patients
.
Here
,
the
authors
report
3
genetically
confirmed
Alexander
disease
cases
with
focal
central
white
matter
lesions
that
,
upon
longitudinal
clinical
and
radiologic
evaluation
,
appear
to
reflect
an
atypical
Alexander
disease
magnetic
resonance
imaging
phenotype
and
not
another
pathophysiologic
process
such
as
encephalitis
,
infarction
,
or
neoplasm
.
Diseases
Validation
Diseases presenting
"neoplasm"
symptom
adrenal incidentaloma
alexander disease
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial hypocalciuric hypercalcemia
focal myositis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated