Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.
[zellweger syndrome]
Patients
with
defects
in
the
biogenesis
of
peroxisomes
include
those
with
Zellweger
syndrome
spectrum
(
ZSS
)
,
a
developmental
and
progressive
metabolic
disease
with
a
distinct
dysmorphic
phenotype
and
varying
severity
.
The
diagnosis
of
ZSS
relies
on
the
clinical
presentation
and
the
biochemical
evaluation
of
peroxisomal
metabolites
.
Mutation
detection
in
one
out
of
twelve
genes
coding
for
proteins
involved
in
the
biogenesis
of
peroxisomes
confirms
the
diagnosis
.
In
the
absence
of
pronounced
clinical
features
of
ZSS
,
neuroradiological
findings
may
lead
the
way
to
the
diagnosis
.
Cerebral
magnetic
resonance
imaging
(
cMRI
)
pathology
in
ZSS
consists
of
abnormal
gyration
pattern
including
polymicrogyria
and
pachygyria
,
leukencephalopathy
,
germinolytic
cysts
and
heterotopias
as
reported
by
previous
systematic
studies
including
cMRI
of
a
total
of
34
ZSS
patients
,
only
five
of
whom
had
a
severe
phenotype
.
The
present
study
evaluated
the
cMRI
results
of
additional
18
patients
,
6
with
a
severe
and
12
with
a
milder
ZSS
phenotype
.
It
confirms
and
extends
knowledge
of
the
characteristic
cMRI
pattern
in
ZSS
patients
.
Besides
an
abnormal
gyration
pattern
and
delayed
myelination
or
leukencephalopathy
,
brain
atrophy
was
a
common
finding
.
Polymicrogyria
and
pachygyria
were
more
common
in
patients
with
severe
ZSS
,
while
leukencephalopathy
increases
with
age
in
patients
with
longer
survival
.
Nevertheless
,
an
abnormal
gyration
pattern
might
be
more
frequent
in
patients
with
a
mild
ZSS
than
deduced
from
previous
studies
.
In
addition
,
we
discuss
the
differential
diagnosis
of
the
ZSS
cMRI
pattern
and
review
investigations
on
the
pathogenesis
of
the
ZSS
cerebral
phenotype
in
mouse
models
of
the
disease
.
Diseases
Validation
Diseases presenting
"pachygyria were more common in patients with severe zss"
symptom
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom