Rare Diseases Symptoms Automatic Extraction
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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
"white matter"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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