Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
MRI and 1H-MRS findings in early-onset cobalamin C/D defect.
[homocystinuria without methylmalonic aciduria]
Cobalamin
C
/
D
defect
is
an
inborn
error
of
cobalamin
metabolism
causing
methylmalonic
aciduria
and
homocystinuria
.
The
early
-onset
form
is
characterized
by
severe
neurological
impairment
.
The
aim
of
this
study
was
to
evaluate
and
monitor
brain
damage
in
early
-onset
cbl-
C
/
D
defect
by
conventional
MRI
and
to
assess
the
additional
value
of
1
H-MRS
.
We
retrospectively
examined
serial
MRI
studies
of
7
patients
,
performed
on
a
1
.
5
T
system
.
Four
patients
had
the
first
evaluation
within
the
first
4
months
of
life
and
three
later
.
The
imaging
protocol
included
spin-
echo
T
1
-
weighted
,
T
2
-
weighted
,
IR
,
and
FLAIR
.
Five
patients
underwent
1
H-MRS
,
using
chemical
shift
imaging
(
CSI
)
in
three
patients
and
single
voxel
spectroscopy
(
SVS
)
in
two
.
Three
of
the
patients
studied
early
showed
tetraventricular
hydrocephalus
and
diffuse
swelling
of
supratentorial
white
matter
with
involvement
of
the
"
U
"
fibres
.
Two
showed
patchy
cavitating
lesions
in
the
basal
ganglia
.
White
matter
changes
became
evident
at
a
later
stage
.
In
three
cases
1
H-MRS
showed
an
abnormal
peak
of
lactate
in
the
basal
ganglia
or
in
the
periventricular
white
matter
.
Our
study
shows
severe
heterogeneous
brain
MR
abnormalities
in
cbl-
C
/
D
defect
.
We
observed
unusual
basal
ganglia
lesions
in
30
%
of
our
cases
and
also
found
a
high
incidence
of
hydrocephalus
and
supratentorial
white
matter
abnormalities
.