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Peroxisomal disorders in children: immunohistochemistry and neuropathology.
[neonatal adrenoleukodystrophy]
Immunohistochemical
studies
with
antisera
against
four
peroxisomal
enzymes
,
catalase
and
beta
-oxidation
enzymes
(
acyl-coenzyme
A
oxidase
,
bifunctional
protein
,
and
3
-
ketoacyl-
CoA
thiolase
)
,
were
performed
on
brain
,
liver
,
and
kidney
specimens
from
patients
with
peroxisomal
disorders
,
as
well
as
specimens
from
three
control
subjects
,
by
using
conventional
paraffin-embedded
autopsy
material
.
The
patients
included
eight
with
Zellweger
syndrome
and
one
with
neonatal
adrenoleukodystrophy
.
In
the
liver
and
kidney
specimens
from
all
patients
,
except
one
with
Zellweger
syndrome
,
diffuse
immunostaining
with
all
antisera
in
the
cytoplasm
of
hepatocytes
and
renal
tubular
epithelium
suggested
an
absence
of
peroxisomes
but
the
presence
of
peroxisomal
enzymes
.
Examination
of
brain
specimens
indicated
a
weak
or
negative
reaction
of
neurons
in
the
cerebral
cortex
and
a
weak
reaction
of
glial
cells
in
the
white
matter
,
which
suggested
maturational
delay
compared
with
control
subjects
.
The
delayed
immunoreactive
pattern
of
peroxisomal
enzymes
in
Zellweger
syndrome
and
neonatal
adrenoleukodystrophy
may
be
related
to
the
significant
neuropathologic
features
of
polymicrogyria
and
dysmyelinogenesis
.
One
patient
with
Zellweger
syndrome
had
a
unique
finding
of
a
positive
granular
catalase
reaction
and
a
negative
reaction
with
antisera
to
3
-
ketoacyl-coenzyme
A
thiolase
,
which
suggested
a
diagnosis
of
pseudo-
Zellweger
syndrome
.
This
study
validates
the
application
of
these
immunohistochemical
methods
to
the
study
of
peroxisomal
enzymes
.
Use
of
these
methods
improves
the
accuracy
of
diagnosis
of
peroxisomal
disorders
.
Diseases
Validation
Diseases presenting
"polymicrogyria"
symptom
alexander disease
canavan disease
cohen syndrome
kabuki syndrome
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated