Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated