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Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.
[wiskott-aldrich syndrome]
Lambert-
Eaton
myasthenic
syndrome
(
LEMS
)
is
an
autoimmune
disease
of
the
presynaptic
neuromuscular
junction
,
typically
occurring
in
adults
as
a
paraneoplastic
syndrome
.
Only
rare
cases
have
been
reported
in
childhood
.
In
most
childhood
cases
,
malignancies
have
not
been
detected
but
a
propensity
to
autoimmune
disease
was
noticed
.
Nevertheless
,
little
is
known
about
genetic
factors
that
may
contribute
to
the
susceptibility
of
an
individual
to
develop
LEMS
.
We
report
on
a
13
-
year
-old
girl
,
known
with
the
Xp
11
.
22
-
p
11
.
23
duplication
syndrome
,
who
presented
with
severe
non-paraneoplastic
LEMS
.
The
potential
role
of
this
microduplication
syndrome
in
the
development
of
LEMS
is
explored
.
Previous
literature
review
of
twelve
Xp
11
.
2
duplication
syndrome
patients
showed
that
three
of
them
suffered
from
various
autoimmune
diseases
.
The
common
duplicated
region
in
those
three
patients
and
the
presented
case
comprises
12
disease-associated
genes
including
the
FOXP
3
(
Forkhead
Box
P
3
)
and
WAS
(
Wiskott-
Aldrich
syndrome
)
gene
,
both
implicated
in
immune
function
.
However
,
it
is
unclear
whether
increased
gene
dosage
of
one
or
both
of
these
genes
can
cause
susceptibility
to
autoimmune
diseases
.
In
conclusion
,
the
presented
case
emphasizes
that
autoimmune
disease
is
a
recurrent
feature
of
the
Xp
11
.
2
duplication
syndrome
,
which
should
be
considered
in
the
follow-up
of
these
patients
.
The
exact
mechanism
underlying
this
autoimmune
propensity
remains
to
be
elucidated
.
Diseases
Validation
Diseases presenting
"autoimmune disease"
symptom
acute rheumatic fever
coats disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
harlequin ichthyosis
inclusion body myositis
kabuki syndrome
malignant atrophic papulosis
omenn syndrome
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated