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Alexander disease: early presence of cerebral MRI criteria.
[alexander disease]
Alexander
disease
is
a
rare
neurodegenerative
disorder
.
Its
most
frequent
subtype
,
the
infantile
form
,
is
characterized
by
an
early
onset
and
a
rapid
neurological
deterioration
during
the
first
months
of
life
.
Since
the
publication
of
cerebral
radiological
criteria
in
2001
,
the
disease
has
often
been
recognized
by
magnetic
resonance
imaging
(
MRI
)
findings
.
We
report
the
case
of
a
girl
who
at
the
age
of
3
months
presented
with
partial
seizures
and
a
normal
neurological
examination
.
MRI
revealed
the
presence
of
a
periventricular
rim
,
extensive
frontal
white
matter
abnormalities
,
abnormalities
of
the
basal
ganglia
and
thalami
and
contrast
enhancement
involving
optic
chiasm
,
fornix
,
hypothalamus
and
mamillary
bodies
,
corresponding
to
four
of
the
five
reported
MRI
criteria
for
Alexander
disease
.
Additional
MRI
abnormalities
not
described
so
far
were
also
observed
.
The
diagnosis
was
confirmed
by
genetic
analysis
.
This
case
illustrates
that
diagnostic
MRI
abnormalities
of
Alexander
disease
may
be
present
at
a
very
young
age
,
long
before
the
appearance
of
characteristic
clinical
signs
.
Early
diagnosis
by
MRI
allows
prompt
counselling
of
families
.
Diseases
Validation
Diseases presenting
"a rapid neurological deterioration during the first months of life"
symptom
alexander disease
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