Rare Diseases Symptoms Automatic Extraction
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[Canavan disease or N-acetyl aspartic aciduria: a case report].
[canavan disease]
Canavan
disease
or
N-
acetyl
aspartic
aciduria
,
is
an
autosomal
recessive
leukodystrophy
characterized
by
spongy
degeneration
of
brain
.
The
disease
is
an
inborn
error
of
metabolism
caused
by
aspartoacylase
deficiency
resulting
from
accumulation
of
N-
acetyl
aspartic
acid
in
the
brain
.
The
authors
report
a
case
in
a
10
-
month
-old
boy
who
presented
with
developmental
delay
and
megalencephaly
noticeable
after
4
months
of
age
.
Magnetic
resonance
imaging
of
the
brain
showed
diffuse
white
matter
degeneration
.
The
diagnosis
of
Canavan
disease
was
confirmed
by
nuclear
magnetic
resonance
spectroscopy
and
gas
chromatography-mass
spectrometry
.
