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[Recurrent small-bowel intussusceptions revealing a disseminated BCG infection related to severe combined
A Venaille1, S Viola1, M Peycelon2
1Service 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.
Insights
Infant intussusceptions can signal underlying immune deficiency. This case highlights Mycobacterium bovis BCG infection revealing severe combined immune deficiency in an infant.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Infectious Diseases
Background:
- Infant intussusception is typically idiopathic but can indicate severe digestive diseases.
- Disseminated Mycobacterium bovis BCG infection is a rare but serious complication, particularly in immunocompromised infants.
- Severe combined immune deficiency (SCID) presents a significant risk factor for disseminated BCG infections.
Observation:
- A 4-month-old infant experienced multiple ileal intussusceptions, severe gastroenteritis, and progressive symptoms including hepatosplenomegaly, pancytopenia, and skin/splenic nodules.
- Initial broad-spectrum antibiotic therapy was ineffective, prompting further etiological investigation.
Findings:
- The infant was diagnosed with Mycobacterium bovis BCG infection secondary to severe combined immune deficiency (SCID).
- This case represents the first reported instance of SCID revealed by small-bowel intussusceptions due to disseminated BCG infection.
Implications:
- Early BCG vaccination in infants with undiagnosed immune deficiencies can trigger disseminated BCG infection.
- Prompt diagnosis and combined treatment (anti-tuberculosis therapy, immunoglobulin, and gene therapy) are crucial for managing such complex cases.
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.
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