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
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated