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Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach

  • Patrícia Horta Oliveira
    Correspondence
    Corresponding author: Tel.: +351 239488700; fax: +351 239717216.
    Affiliations
    Department of Pediatric Surgery, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal
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  • Catarina Cunha
    Affiliations
    Department of Pediatric Surgery, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal
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  • Susana Almeida
    Affiliations
    Pediatric Gastrenterology Unit, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal
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  • Ricardo Ferreira
    Affiliations
    Pediatric Gastrenterology Unit, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal
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  • Sofia Maia
    Affiliations
    Department of Medical Genetics, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal
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  • Jorge Manuel Saraiva
    Affiliations
    Department of Medical Genetics, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal

    Faculty of Medicine, University of Coimbra, Rua larga, 3004-504 Coimbra, Portugal
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  • Maria Francelina Lopes
    Affiliations
    Department of Pediatric Surgery, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal

    Faculty of Medicine, University of Coimbra, Rua larga, 3004-504 Coimbra, Portugal
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      Abstract

      Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6 years of age. A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.

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