Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.
[cowden syndrome]
We
report
the
case
of
a
girl
with
Cowden
syndrome
(
CS
)
presenting
with
unilateral
perisylvian
dysplasia
and
with
drug
resistant
focal
seizures
carrying
a
novel
missense
mutation
385
G
>
A
(
G
129
R
)
in
the
PTEN
gene
.
CS
has
been
rarely
reported
in
association
with
a
cortical
malformation
or
epilepsy
.
These
cases
suggest
that
cortical
dysplasia
needs
to
be
suspected
when
a
CS
patient
presents
with
drug-resistant
seizures
.
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