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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
"large cystic areas"
symptom
pyruvate dehydrogenase deficiency
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