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Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
[pyruvate dehydrogenase deficiency]
There
is
little
information
in
the
literature
regarding
the
usefulness
of
ultrastructural
examination
of
axillary
skin
biopsies
in
the
evaluation
of
metabolic
diseases
.
This
is
a
retrospective
clinicopathologic
review
of
143
patients
who
underwent
axillary
skin
biopsies
as
part
of
evaluations
for
metabolic
disease
.
Twenty
-
three
(
16
%
)
had
abnormalities
,
classified
as
follows
:
mitochondrial
(
n
=
12
)
,
lysosomal
(
n
=
6
)
,
increased
glycogen
(
n
=
3
)
,
nonspecific
cytoplasmic
inclusions
(
n
=
2
)
,
ceroid
lipofuscinosis
(
n
=
1
)
,
and
intradermal
giant
cells
containing
vacuoles
and
tubular
inclusions
(
n
=
1
)
.
Muscle
biopsies
were
performed
in
13
of
the
23
patients
;
11
showed
abnormalities
,
including
those
related
to
mitochondria
(
n
=
4
)
and
other
nonspecific
changes
(
n
=
7
)
.
Two
patients
underwent
postmortem
examination
.
Follow-up
was
available
in
21
patients
.
A
clinical
or
biochemical
diagnosis
was
reached
in
11
patients
:
metachromatic
leukodystrophy
(
n
=
2
)
,
electron
transport
chain
abnormalities
(
n
=
2
)
,
glutaric
aciduria
type
II
(
n
=
1
)
,
Unverricht
disease
(
n
=
1
)
,
Lennox-
Gastaut
syndrome
(
n
=
1
)
,
ketotic
hypoglycemia
of
childhood
(
n
=
1
)
,
probable
Leigh
disease
(
n
=
1
)
,
5
-
methyl
tetrahydrofolate
homocystine
methyltransferase
deficiency
(
n
=
1
)
,
and
pyruvate
dehydrogenase
deficiency
(
n
=
1
)
.
Of
the
120
patients
with
negative
skin
biopsy
results
,
29
had
abnormal
findings
on
muscle
(
n
=
27
)
,
nerve
(
n
=
7
)
,
or
brain
(
n
=
3
)
biopsies
.
One
patient
had
an
abnormal
heart
biopsy
result
,
and
3
patients
underwent
postmortem
examinations
.
Follow-up
was
obtained
in
27
of
29
patients
.
Diagnoses
were
achieved
in
15
patients
:
electron
transport
chain
abnormalities
(
n
=
5
)
,
cortical
dysplasia
(
n
=
3
)
,
myoclonic
epilepsy
(
n
=
1
)
,
leukodystrophy
(
n
=
2
)
,
Pallister-
Killian
mosaic
syndrome
(
n
=
1
)
,
Rett
syndrome
(
n
=
1
)
,
Landau-
Kleffner
syndrome
(
n
=
1
)
,
and
mitochondrial
cardiomyopathy
(
n
=
1
)
.
In
conclusion
,
axillary
skin
biopsy
is
helpful
in
the
evaluation
of
some
causes
of
metabolic
disease
,
but
often
the
findings
are
nonspecific
.
A
negative
biopsy
result
does
not
rule
out
the
possibility
of
metabolic
disease
,
but
a
positive
result
may
provide
direction
for
further
evaluation
.
Diseases
Validation
Diseases presenting
"and 3 patients underwent postmortem examinations"
symptom
pyruvate dehydrogenase deficiency
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