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[Recurrent small-bowel intussusceptions revealing a disseminated BCG infection related to severe combined immunodeficiency].
[severe combined immunodeficiency]
Infant
small
-
bowel
intussusceptions
,
most
of
the
time
idiopathic
,
may
exceptionally
reveal
a
severe
digestive
disease
.
We
report
the
case
of
a
4
-
month
-old
infant
who
presented
multiple
and
simultaneous
ileal
intussusceptions
associated
with
severe
acute
gastroenteritis
.
Initially
,
the
infant
showed
a
protein-losing
enteropathy
with
a
clear
alteration
of
the
general
state
of
health
and
undocumented
fever
,
resistant
to
broad
-spectrum
antibiotic
therapy
.
Skin
and
splenic
nodules
associated
with
hepatosplenomegaly
and
pancytopenia
set
in
progressively
.
The
etiologic
evaluation
led
to
the
diagnosis
of
a
Mycobacterium
bovis
BCG
infection
related
to
severe
combined
immune
deficiency
.
The
treatment
consisted
in
anti-
tuberculosis
quadruple
therapy
in
association
with
immunoglobin
supplementation
.
Secondarily
,
the
patient
underwent
gene
therapy
in
a
clinical
trial
.
An
early
BCG
vaccine
in
the
first
weeks
of
life
,
before
the
outbreak
of
infection
revealing
the
immune
deficiency
,
is
a
risk
factor
in
triggering
a
disseminated
BCG
infection
in
immunodepressed
infants
.
This
clinical
case
is
the
first
reported
of
severe
combined
immune
deficiency
revealed
by
small
-
bowel
intussusceptions
related
to
a
disseminated
BCG
infection
.
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