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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
.