title: [Recurrent small-bowel intussusceptions revealing a disseminated BCG infection related to severe combined immunodeficiency].
abstract: 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.
authors: Service de nutrition et gastroentérologie pédiatriques, hôpital Trousseau, université Pierre et Marie-Curie, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France.
authors: A
authors: A
authors: Venaille
authors: Service de nutrition et gastroentérologie pédiatriques, hôpital Trousseau, université Pierre et Marie-Curie, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France.
authors: S
authors: S
authors: Viola
authors: Service de chirurgie viscérale et néonatale pédiatrique, hôpital Trousseau, université Pierre et Marie-Curie, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France.
authors: M
authors: M
authors: Peycelon
authors: Service de chirurgie viscérale et néonatale pédiatrique, hôpital Trousseau, université Pierre et Marie-Curie, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France.
authors: A
authors: A
authors: Grand d'Esnon
authors: Service d'hématologie et oncologie pédiatrique, hôpital Trousseau, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France.
authors: S
authors: S
authors: Fasola
authors: Service de chirurgie viscérale et néonatale pédiatrique, hôpital Trousseau, université Pierre et Marie-Curie, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France.
authors: G
authors: G
authors: Audry
authors: Service de radiologie pédiatrique, hôpital Trousseau, université Pierre et Marie-Curie, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France.
authors: H
authors: H
authors: Ducou Le Pointe
authors: Service de nutrition et gastroentérologie pédiatriques, hôpital Trousseau, université Pierre et Marie-Curie, AP-HP, 26, avenue du Dr-Arnold-Netter, 75571 Paris cedex 12, France. Electronic address: p.tounian@trs.aphp.fr.
authors: P
authors: P
authors: Tounian
mesh_terms: D006801:Humans; D007077:Ileal Diseases / Q000382:microbiology*; D007223:Infant; D007443:Intussusception / Q000382:microbiology*; D008297:Male; D009163:Mycobacterium bovis; D012008:Recurrence; D016511:Severe Combined Immunodeficiency / Q000150:complications*; D014376:Tuberculosis / Q000209:etiology*