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Alexander disease with mild dorsal brainstem atrophy and infantile spasms.
[alexander disease]
We
present
the
case
of
a
Japanese
male
infant
with
Alexander
disease
who
developed
infantile
spasms
at
8
months
of
age
.
The
patient
had
a
cluster
of
partial
seizures
at
4
months
of
age
.
He
presented
with
mild
general
hypotonia
and
developmental
delay
.
Macrocephaly
was
not
observed
.
Brain
magnetic
resonance
imaging
(
MRI
)
findings
fulfilled
all
MRI-based
criteria
for
the
diagnosis
of
Alexander
disease
and
revealed
mild
atrophy
of
the
dorsal
pons
and
medulla
oblongata
with
abnormal
intensities
.
DNA
analysis
disclosed
a
novel
heterozygous
missense
mutation
(
c
.
1154
C
>
T
,
p
.
S
385
F
)
in
the
glial
fibrillary
acidic
protein
gene
.
At
8
months
of
age
,
tonic
spasms
occurred
,
and
electroencephalography
(
EEG
)
revealed
hypsarrhythmia
.
Lamotrigine
effectively
controlled
the
infantile
spasms
and
improved
the
abnormal
EEG
findings
.
Although
most
patients
with
infantile
Alexander
disease
have
epilepsy
,
infantile
spasms
are
rare
.
This
comorbid
condition
may
be
associated
with
the
distribution
of
the
brain
lesions
and
the
age
at
onset
of
Alexander
disease
.
Diseases
Validation
Diseases presenting
"infantile spasms"
symptom
alexander disease
cowden syndrome
pyruvate dehydrogenase deficiency
This symptom has already been validated
