Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Subtle brain abnormalities in adrenomyeloneuropathy].
[adrenomyeloneuropathy]
To
describe
subtle
brain
abnormalities
detected
on
MRI
in
adult
patients
with
adrenomyeloneuropathy
(
AMN
)
.
Materials
and
methods
.
Retrospective
evaluation
of
data
acquired
prospectively
as
part
of
a
clinical
trial
(
Riluzole
)
in
66
adult
patients
with
AMN
without
obvious
brain
lesion
on
MR
.
All
patients
underwent
brain
MR
including
T
1
W
,
T
2
W
,
FLAIR
and
spectroscopy
.
After
a
review
had
been
validated
by
three
different
reviewers
,
review
of
MR
images
was
performed
by
consensus
using
a
semi-quantitative
scale
.
Preliminary
analysis
of
MR
images
confirmed
the
presence
of
signal
abnormalities
involving
the
corticospinal
tracts
in
36
patients
(
54
.
6
%
)
.
Additional
subtle
abnormalities
were
also
detected
:
white
matter
palor
,
mainly
parieto-
occipital
in
location
,
with
patchy
hyperintensity
in
36
patients
(
54
.
6
%
)
,
hyperintense
pontocerebellar
fibers
on
T
2
W
and
FLAIR
in
25
patients
(
41
.
7
%
)
.
The
presence
of
elevated
Cho
/
Cr
and
mI
/
Cr
ratios
,
described
in
the
literature
,
were
confirmed
.
This
retrospective
study
allows
the
description
of
an
AMN
pattern
on
MRI
in
patients
without
white
matter
or
callosal
abnormalities
.
Diseases
Validation
Diseases presenting
"white matter"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom