Rare Diseases Symptoms Automatic Extraction
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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
"macrocephaly"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
kabuki syndrome
monosomy 21
proteus syndrome
wolf-hirschhorn syndrome
This symptom has already been validated