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
"aciduria"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
child syndrome
classical phenylketonuria
cohen syndrome
cystinuria
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
x-linked adrenoleukodystrophy
This symptom has already been validated
