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Brain MRI features of merosin-negative congenital muscular dystrophy.
[canavan disease]
The
purpose
of
this
article
is
to
report
brain
MRI
findings
of
merosin-negative
congenital
muscular
dystrophy
(
CMD
)
in
two
cases
and
to
discuss
its
differentiation
from
other
CMD
subtypes
.
The
cases
were
investigated
by
1
.
5
Tesla
MRI
equipment
using
T
1
-
weighted
,
T
2
-
weighted
,
fluid-attenuated
inversion
recovery
(
FLAIR
)
,
3
D
fast
spoiled
gradient
recalled
(
SPGR
)
and
post-contrast
gadolinium
enhanced
sequences
and
the
diagnosis
was
confirmed
by
muscle
biopsy
with
immunohistochemical
staining
for
merosin
.
Magnetic
resonance
imaging
showed
bilateral
subcortical
U-
fibre
white
matter
changes
with
periventricular
sparing
in
the
first
case
.
Though
this
imaging
finding
is
non-
specific
and
could
be
seen
in
other
white
matter
diseases
like
Canavan
disease
,
the
absence
of
other
distinguishing
MRI
and
clinical
features
of
those
conditions
allowed
a
proper
diagnosis
.
The
second
case
showed
diffuse
subcortical
and
deep
white
matter
involvement
and
cerebellar
cysts
.
There
was
no
brainstem
involvement
,
polymicrogyria
or
cobblestone
lissencephaly
in
both
of
our
cases
which
allowed
differentiation
of
merosin-negative
CMD
from
other
CMDs
.
Muscle
biopsy
in
both
these
patients
showed
dystrophic
changes
with
absent
staining
for
merosin
confirming
the
diagnosis
.
Merosin-negative
CMD
should
be
considered
in
the
imaging
differential
diagnosis
of
white
matter
diseases
.
In
a
patient
presenting
with
features
of
CMD
,
MRI
can
be
of
help
in
further
differentiation
of
the
various
CMD
subtypes
.
Diseases
Validation
Diseases presenting
"second case"
symptom
allergic bronchopulmonary aspergillosis
canavan disease
coats disease
cutaneous mastocytosis
esophageal adenocarcinoma
fabry disease
holt-oram syndrome
junctional epidermolysis bullosa
legionellosis
malignant atrophic papulosis
omenn syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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