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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
.
Diseases
Validation
Diseases presenting
"hydrocephalus"
symptom
achondroplasia
alexander disease
canavan disease
congenital toxoplasmosis
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
monosomy 21
proteus syndrome
severe combined immunodeficiency
sneddon syndrome
von hippel-lindau disease
wiskott-aldrich syndrome
This symptom has already been validated