Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype.
[krabbe disease]
Initial
magnetic
resonance
imaging
studies
of
individuals
with
Krabbe
disease
were
analyzed
to
determine
whether
the
pattern
of
abnormalities
corresponded
to
the
phenotype
.
This
was
a
retrospective
,
nonblinded
study
.
Families
/
patients
diagnosed
with
Krabbe
disease
submitted
medical
records
and
magnetic
resonance
imaging
discs
for
central
review
.
Institutional
review
board
approval
/
informed
consents
were
obtained
.
Sixty
-
four
magnetic
resonance
imaging
scans
were
reviewed
by
two
neuroradiologists
and
a
child
neurologist
according
to
phenotype
:
early
infantile
(
onset
0
-
6
months
)
=
39
patients
;
late
infantile
(
onset
7
-
12
months
)
=
10
patients
;
later
onset
(
onset
13
months
-
10
years
)
=
11
patients
;
adolescent
(
onset
11
-
20
years
)
=
one
patient
;
and
adult
(
21
years
or
greater
)
=
three
patients
.
Local
interpretations
were
compared
with
central
review
.
Magnetic
resonance
imaging
abnormalities
differed
among
phenotypes
.
Early
infantile
patients
had
a
predominance
of
increased
intensity
in
the
dentate
/
cerebellar
white
matter
as
well
as
changes
in
the
deep
cerebral
white
matter
.
Later
onset
patients
did
not
demonstrate
involvement
in
the
dentate
/
cerebellar
white
matter
but
had
extensive
involvement
of
the
deep
cerebral
white
matter
,
parieto-
occipital
region
,
and
posterior
corpus
callosum
.
Late
infantile
patients
exhibited
a
mixed
pattern
;
40
%
had
dentate
/
cerebellar
white
matter
involvement
while
all
had
involvement
of
the
deep
cerebral
white
matter
.
Adolescent
/
adult
patients
demonstrated
isolated
corticospinal
tract
involvement
.
Local
and
central
reviews
primarily
differed
in
interpretation
of
the
early
infantile
phenotype
.
Analysis
of
magnetic
resonance
imaging
in
a
large
cohort
of
symptomatic
patients
with
Krabbe
disease
demonstrated
imaging
abnormalities
correspond
to
specific
phenotypes
.
Knowledge
of
these
patterns
along
with
typical
clinical
signs
/
symptoms
should
promote
earlier
diagnosis
and
facilitate
treatment
.
Diseases
Validation
Diseases presenting
"corpus callosum"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
gm1 gangliosidosis
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom