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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
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated
