Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier.
[x-linked adrenoleukodystrophy]
Progressive
dementia
is
a
rare
phenotypic
feature
of
female
X-
ALD
carriers
.
Even
rarer
is
the
additional
presence
of
further
risk
factors
for
dementia
,
such
as
diabetes
,
hypothyroidism
,
and
hepatopathy
.
We
report
a
unique
female
X-
ALD
carrier
presenting
with
severe
,
progressive
dementia
,
paraspasticity
,
sphincteric
dysfunction
,
and
multisystem
disease
.
A
79
years
-old
female
with
a
history
of
strumectomy
,
diabetes
,
hepatopathy
,
hypothyroidism
,
arterial
hypertension
,
hiatal
hernia
,
left
retinal
ablation
,
ovariectomy
,
hysterectomy
,
osteoporosis
,
bilateral
hip
endoprosthesis
,
and
neurogenic
bladder
dysfunction
developed
slowly
progressive
cognitive
decline
since
age
of
77
years
.
She
had
been
identified
as
a
female
carrier
of
X-
ALD
in
12
/
2010
upon
a
family
screening
.
At
age
of
79
years
she
presented
with
severe
dementia
,
anxiety
,
unsteadiness
,
helplessness
,
hypertelorism
,
exaggerated
patella
tendon
reflexes
,
reduced
Achilles
tendon
reflexes
,
club
feet
,
contractures
of
the
ankles
,
the
knees
,
and
the
hips
,
and
the
inability
to
stay
or
walk
.
Cerebral
CT
showed
diffuse
atrophy
,
demyelination
periventricularly
,
small
lacunas
in
the
basal
ganglia
,
and
small
calcifications
of
the
basal
ganglia
and
the
temporal
lobe
on
the
right
side
.
Differential
diagnoses
of
dementia
were
considered
but
were
all
excluded
upon
the
clinical
presentation
,
blood
chemical
investigations
,
imaging
studies
,
and
the
pattern
of
neuropsychological
deficits
.
With
progression
of
the
disease
manifesting
X-
ALD
carriers
may
develop
progressive
severe
dementia
,
severe
paraspasticity
,
and
sphincteric
dysfunction
.
Female
carriership
of
X-
ALD
can
be
a
differential
diagnosis
of
dementia
.
Diseases
Validation
Diseases presenting
"exaggerated patella tendon reflexes"
symptom
x-linked adrenoleukodystrophy
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