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Diffusion tensor imaging of the brainstem in children with achondroplasia.
[achondroplasia]
The
aims
of
this
study
were
to
compare
,
using
diffusion
tensor
imaging
(
DTI
)
of
the
brainstem
,
microstructural
integrity
of
the
white
matter
in
children
with
achondroplasia
and
age-matched
participants
and
to
correlate
the
severity
of
craniocervical
junction
(
CCJ
)
narrowing
and
neurological
findings
with
DTI
scalars
in
children
with
achondroplasia
.
This
study
also
aimed
to
assess
the
potential
role
of
fibroblast
growth
factor
receptor
type
3
on
white
matter
microstructure
.
Diffusion
tensor
imaging
was
performed
using
a
1
.
5
T
magnetic
resonance
scanner
and
balanced
pairs
of
diffusion
gradients
along
20
non-collinear
directions
.
Measurements
were
obtained
from
regions
of
interest
,
sampled
in
each
pontine
corticospinal
tract
(
CST
)
,
medial
lemniscus
,
and
middle
cerebellar
peduncle
,
as
well
as
in
the
lower
brainstem
and
centrum
semiovale
,
for
fractional
anisotropy
and
for
mean
,
axial
,
and
radial
diffusivity
.
In
addition
,
a
severity
score
for
achondroplasia
was
assessed
by
measuring
CCJ
narrowing
.
Eight
patients
with
achondroplasia
(
seven
males
,
one
female
;
mean
age
5
y
6
mo
,
range
1
y
1
mo
-
15
y
1
mo
)
and
eight
age-
and
sex-matched
comparison
participants
(
mean
age
5
y
2
mo
,
range
1
y
1
mo
-
14
y
11
mo
)
were
included
in
this
study
.
Fractional
anisotropy
was
lower
and
mean
diffusivity
and
radial
diffusivity
were
higher
in
the
lower
brainstem
of
patients
with
achondroplasia
than
in
age-matched
comparison
participants
.
The
CST
and
middle
cerebellar
peduncle
of
the
participants
showed
increases
in
mean
,
axial
,
and
radial
diffusivity
.
Fractional
anisotropy
in
the
lower
brainstem
was
negatively
correlated
with
the
degree
of
CCJ
narrowing
.
No
differences
in
the
DTI
metrics
of
the
centrum
semiovale
were
observed
between
the
two
groups
.
The
reduction
in
fractional
anisotropy
and
increase
in
diffusivities
in
the
lower
brainstem
of
participants
with
achondroplasia
may
reflect
secondary
encephalomalacic
degeneration
and
cavitation
of
the
affected
white
matter
tracts
as
shown
by
histology
.
In
children
with
achondroplasia
,
DTI
may
serve
as
a
potential
biomarker
for
brainstem
white
matter
injury
and
aid
in
the
care
and
management
of
these
patients
.
Diseases
Validation
Diseases presenting
"middle cerebellar peduncle"
symptom
achondroplasia
alexander disease
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