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
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated