Rare Diseases Symptoms Automatic Extraction
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Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.
[cowden syndrome]
A
55
-
year
-old
man
presented
with
seizures
characterized
by
"
tightening
"
of
the
right
side
and
variable
loss
of
awareness
.
EEG
showed
focal
epileptogenic
abnormalities
over
left
and
midline
central
regions
.
MRI
showed
left
frontal
focal
cortical
dysplasia
(
figure
1
)
.
He
had
multiple
skin
lesions
(
figure
2
)
and
colonoscopy
revealed
gastrointestinal
mucosal
ganglioneuromas
.
Genetic
testing
of
PTEN
gene
confirmed
a
diagnosis
of
Cowden
syndrome
(
CS
)
.
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