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Infantile Alexander disease: A rare leukodystrophy.
[alexander disease]
Infantile
Alexander
disease
(
AD
)
is
a
rare
leukodystrophy
characterized
by
its
early
onset
within
2
years
of
life
and
clinically
presents
with
macrocephaly
,
seizures
,
and
retarded
psychomotor
development
.
Magnetic
resonance
imaging
(
MRI
)
shows
characteristic
symmetric
white
matter
abnormalities
with
frontal
predominance
.
We
present
a
case
of
infantile
AD
with
typical
clinical
characteristics
and
MRI
features
.
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