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Cerebral white matter involvement in children with mitochondrial encephalopathies.
[pyruvate dehydrogenase deficiency]
In
childhood
mitochondrial
encephalopathies
the
common
MRI
features
are
bilateral
symmetric
abnormalities
in
basal
nuclei
and
brainstem
.
The
presence
of
diffuse
white
matter
abnormality
has
been
described
only
in
a
few
cases
.
Among
a
series
of
110
children
with
mitochondrial
encephalopathies
,
8
patients
with
MR
imaging
consistent
with
a
leukoencephalopathy
were
retrospectively
evaluated
.
Diagnosis
was
based
on
the
recognition
of
the
biochemical
defect
in
muscle
homogenate
.
H-MR
spectroscopic
imaging
was
performed
in
six
of
them
.
Biochemical
analysis
demonstrated
a
defect
of
respiratory
chain
complexes
in
six
patients
:
complex
I
in
two
cases
,
complex
II
in
two
,
complex
IV
in
one
,
multiple
complexes
defect
in
one
.
Pyruvate
dehydrogenase
deficiency
was
demonstrated
in
two
patients
.
MRI
showed
severe
involvement
of
the
brain
white
matter
without
significant
basal
nuclei
or
brainstem
abnormalities
.
Two
patients
developed
large
cystic
areas
since
onset
;
in
two
others
progressive
vacuolisation
of
affected
white
matter
was
seen
later
in
the
course
of
the
disease
.
One
patient
with
pyruvate
dehydrogenase
deficiency
also
presented
with
a
diffuse
cortical
polymicrogyria
.
H-MR
spectroscopic
imaging
showed
a
decrease
of
N-
acetylaspartate
,
choline
and
creatine
with
lactate
accumulation
in
five
patients
,
and
was
normal
in
one
.
These
findings
suggest
that
mitochondrial
disorders
should
be
included
in
the
differential
diagnosis
of
white
matter
disorders
.
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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