Rare Diseases Symptoms Automatic Extraction
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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
"abnormal gyration"
symptom
zellweger syndrome
This symptom has already been validated