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Isolated capillary proliferation in Leigh's syndrome.
[pyruvate dehydrogenase deficiency]
An
infant
with
hypotonia
and
recurrent
apneic
spells
died
with
a
diagnosis
of
pyruvate
dehydrogenase
deficiency
and
showed
typical
pathological
changes
of
Leigh
's
syndrome
at
postmortem
.
Despite
the
prominence
of
symptoms
suggesting
dysfunction
of
brainstem
respiratory
centers
during
life
,
lesions
were
not
found
in
the
upper
medulla
.
However
,
quantitative
morphometric
analysis
demonstrated
abnormal
capillary
hyperplasia
in
the
region
including
and
between
the
nucleus
ambiguus
and
nucleus
tractus
solitarius
.
There
was
an
average
area
of
8
.
0
+
/
-
2
.
5
x
10
(
6
)
mm
2
occupied
by
capillaries
per
0
.
75
mm
2
field
in
the
patient
's
brainstem
,
compared
with
4
.
6
+
/
-
1
.
6
x
10
(
6
)
mm
2
and
5
.
5
+
/
-
1
.
4
x
10
(
6
)
mm
2
in
two
age-matched
controls
(
p
<
0
.
01
)
.
We
speculate
that
capillary
hyperplasia
is
a
pathological
marker
of
chronically
impaired
oxidative
metabolism
in
the
central
nervous
system
in
metabolic
disease
.
Diseases
Validation
Diseases presenting
"chronically impaired oxidative metabolism in the central nervous system in metabolic disease"
symptom
pyruvate dehydrogenase deficiency
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