Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease.
[canavan disease]
Our
group
has
previously
reported
the
first
clinical
application
of
lithium
in
a
child
affected
by
Canavan
disease
.
In
this
study
,
we
aimed
to
assess
the
effects
of
lithium
on
N-
acetyl
aspartate
(
NAA
)
as
well
as
other
end
points
in
a
larger
cohort
.
Six
patients
with
clinical
,
laboratory
and
genetic
confirmation
of
Canavan
disease
were
recruited
and
underwent
treatment
with
lithium
.
The
battery
of
safety
and
efficacy
testing
performed
before
and
after
sixty
days
of
treatment
included
Gross
Motor
Function
Testing
(
GMFM
)
,
Magnetic
Resonance
Imaging
(
MRI
)
Proton
Magnetic
Spectroscopy
(
H-MRS
)
as
well
as
blood
work
.
The
medication
was
safe
without
any
clinical
or
laboratory
evidence
for
toxicity
.
Parental
reports
indicated
improvement
in
alertness
and
social
interactions
.
GMFM
did
not
show
statistically
significant
improvement
in
motor
development
.
H-MRS
documented
an
overall
drop
in
NAA
which
was
statistically
significant
in
the
basal
ganglia
.
T
1
measurements
recorded
on
MRI
studies
suggested
a
mild
improvement
in
myelination
in
the
frontal
white
matter
after
treatment
.
Diffusion
Tensor
Imaging
was
available
in
two
patients
and
suggested
micro-structural
improvement
in
the
corpus
callosum
.
The
results
suggest
that
lithium
administration
may
be
beneficial
in
patients
with
Canavan
disease
.
Diseases
Validation
Diseases presenting
"corpus callosum"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
gm1 gangliosidosis
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom