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Neonatal Alexander disease: MR imaging prenatal diagnosis.
[alexander disease]
Alexander
disease
(
AD
)
is
a
rare
neurodegenerative
disorder
characterized
by
megalencephaly
,
leukoencephalopathy
,
and
Rosenthal
fibers
within
astrocytes
.
This
report
describes
the
case
of
a
female
patient
with
sonography-detected
ventriculomegaly
at
32
weeks
'
gestation
and
distinctive
MR
imaging
features
at
33
and
36
weeks
'
gestation
,
at
birth
,
and
at
2
months
of
age
,
which
led
to
the
suggested
diagnosis
of
Alexander
disease
.
Molecular
analysis
confirmed
a
missense
mutation
in
the
GFAP
gene
.
The
literature
contains
little
information
on
the
fetal
MR
imaging
findings
that
may
allow
prenatal
diagnosis
of
AD
.
Diseases
Validation
Diseases presenting
"female patient"
symptom
achondroplasia
adrenal incidentaloma
alexander disease
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
coats disease
cohen syndrome
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
fabry disease
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
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