Rare Diseases Symptoms Automatic Extraction
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Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy.
[alexander disease]
We
report
a
case
of
a
5
-
year
-old
boy
with
intractable
epilepsy
who
underwent
therapeutic
corticectomy
.
Histopathologic
findings
within
the
resection
specimen
included
severe
cortical
dysplasia
associated
with
abundant
subpial
and
intraparenchymal
Rosenthal
fibers
in
a
large
right
frontal
lesion
that
merged
into
the
basal
ganglia
.
Rosenthal
fiber
proliferation
may
represent
a
reactive
process
,
are
frequent
in
pilocytic
astrocytomas
,
and
are
a
defining
feature
of
Alexander
disease
.
There
was
no
evidence
of
neoplasm
or
leukodystrophy
in
this
case
.
Genetic
analysis
of
the
specimen
showed
a
few
previously
reported
polymorphisms
but
no
mutation
in
the
GFAP
gene
.
This
case
is
unique
among
several
hundred
cortical
resection
specimens
that
we
have
studied
,
including
numerous
cases
of
severe
cortical
dysplasia
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated