Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: a case report.
[22q11.2 deletion syndrome]
We
describe
a
case
of
a
15
-
month
-old
female
child
admitted
to
our
hospital
because
of
fever
,
rash
,
neurological
signs
(
oscillation
between
states
of
irritability
and
drowsiness
)
,
palpebral
edema
and
drooping
eyelid
,
appeared
10
days
after
the
vaccination
for
measles
,
mumps
and
rubella
.
Brain
MRI
images
showed
multiple
bilateral
hyperintense
lesions
in
the
white
matter
typical
of
acute
disseminated
encephalomyelitis
(
ADEM
)
,
an
autoimmune
demyelinating
disorder
with
inflammatory
lesions
of
the
central
nervous
system
,
due
to
viral
antigens
or
vaccines
.
In
the
mean
time
,
because
of
patient
's
vague
phenotypic
manifestations
,
suggestive
of
a
genetic
defect
,
array
comparative
genomic
hybridization
was
carried
out
which
showed
the
presence
of
a
microdeletion
22
q
11
.
2
1
,
linked
to
the
DiGeorge
syndrome
.
Our
case
suggests
that
pediatric
cases
of
post-vaccination
ADEM
,
in
which
neurological
signs
persist
,
should
be
investigated
for
genetic
phenotypical
features
,
in
order
to
exclude
the
presence
of
a
genetic
syndrome
or
disease
.
Diseases
Validation
Diseases presenting
"drooping eyelid"
symptom
22q11.2 deletion syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
