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Lithium citrate as treatment of Canavan disease.
[canavan disease]
Canavan
disease
is
a
rare
autosomal
recessive
leukodystrophy
characterized
by
abnormal
accumulation
of
N-
acetyl
aspartate
(
NAA
)
in
brain
white
matter
.
Currently
,
there
is
no
cure
for
this
disease
,
and
management
of
patients
consists
mainly
of
treating
symptoms
.
We
describe
a
3
-
month
-old
girl
who
was
hospitalized
for
poor
head
control
and
decreased
muscle
tone
.
A
battery
of
laboratory
and
genetic
(
homozygous
mutation
p
.
C
2
18
X
)
analysis
revealed
the
presence
of
Canavan
disease
.
Lithium
citrate
was
initiated
at
a
dosage
of
45
mg
/
kg
per
day
after
diagnosis
.
Periodic
controls
of
thyroid
and
liver
function
,
and
lithium
levels
in
blood
showed
that
this
drug
was
sure
and
well
tolerated
.
After
1
year
of
treatment
,
NAA
levels
decreased
by
approximately
20
%
in
the
brain
region
,
urinary
NAA
levels
showed
a
reduction
of
80
%
,
and
patient
improved
alertness
and
visual
tracking
but
continued
with
no
heat
support
,
axial
hypotonia
,
and
spastic
diplegia
.
In
our
patient
,
the
results
obtained
after
drug
administration
are
important
with
respect
to
the
decrease
in
NAA
and
more
discreet
in
clinical
improvement
.
However
,
given
the
absence
of
adverse
effects
and
limited
treatment
options
,
lithium
citrate
may
be
a
good
alternative
to
stop
the
progression
of
the
disease
and
improve
the
quality
of
life
of
patients
.
Diseases
Validation
Diseases presenting
"urinary naa levels showed a reduction of 80%"
symptom
canavan disease
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