Rare Diseases Symptoms Automatic Extraction
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[Megalencephaly with dystonia revealing Canavan disease].
[canavan disease]
Canavan
disease
,
or
N-
acetyl
aspartic
aciduria
,
is
an
autosomal
recessive
leukodystrophy
characterized
by
spongy
degeneration
of
the
brain
.
The
disease
results
from
the
accumulation
of
N-
acetyl
aspartic
acid
in
the
brain
,
due
to
aspartoacylase
deficiency
.
We
report
the
case
of
a
6
-
month
-old
girl
who
presented
with
megalencephaly
,
peripheral
hypertonia
,
and
a
developmental
delay
noticeable
after
4
months
of
age
.
Magnetic
resonance
imaging
of
the
brain
with
spectroscopy
was
suggestive
of
Canavan
disease
,
which
was
confirmed
by
chromatography
of
urinary
organic
acids
.
Diseases
Validation
Diseases presenting
"developmental delay"
symptom
22q11.2 deletion syndrome
achondroplasia
alexander disease
alpha-thalassemia
aniridia
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
