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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
"early onset"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
coats disease
cohen syndrome
congenital diaphragmatic hernia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
inclusion body myositis
kindler syndrome
krabbe disease
papillon-lefèvre syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wolf-hirschhorn syndrome
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