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Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
[pyruvate dehydrogenase deficiency]
We
experienced
a
case
of
pyruvate
dehydrogenase
deficiency
observed
by
proton
magnetic
resonance
spectroscopy
(
1
H
MRS
)
.
This
case
was
diagnosed
as
West
syndrome
by
characteristic
convulsion
and
the
periodic
hypsarrhythmia
pattern
of
EEG
.
At
the
age
of
11
months
,
the
first
examination
of
1
H
MRS
revealed
a
high
peak
of
lactate
,
and
the
high
concentration
of
lactate
and
pyruvate
was
confirmed
in
sampled
cerebrospinal
fluid
(
CSF
)
.
Deficiency
of
pyruvate
dehydrogenase
complex
was
finally
diagnosed
by
genetic
examination
.
Dichloroacetate
was
administered
to
the
patient
as
therapy
.
Decrease
of
lactate
in
the
brain
was
found
by
1
H
MRS
.
Lactate
and
pyruvate
in
the
CSF
was
also
decreased
.
In
accordance
with
the
suspension
of
dichloroacetate
,
increase
of
lactate
in
the
brain
was
detected
and
the
convulsions
reappeared
.
After
readministration
of
dichloroacetate
,
the
patient
was
almost
symptom
free
and
lactate
in
the
brain
and
CSF
had
decreased
to
the
normal
extent
.
We
considered
that
1
H
MRS
provides
useful
information
for
screening
metabolic
disorders
of
infants
and
assessing
the
efficacy
of
therapy
.
Diseases
Validation
Diseases presenting
"first examination"
symptom
child syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
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