Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"dysmyelinogenesis"
symptom
neonatal adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom