title: Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.
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.
authors: Department of Pediatric Surgery, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra Av. Afonso Romão, Santo António dos Olivais, 3000-602 Coimbra-Portugal. patriciahortaoliveira@gmail.com
authors: Patrícia Horta
authors: PH
authors: Oliveira
authors: Catarina
authors: C
authors: Cunha
authors: Susana
authors: S
authors: Almeida
authors: Ricardo
authors: R
authors: Ferreira
authors: Sofia
authors: S
authors: Maia
authors: Jorge Manuel
authors: JM
authors: Saraiva
authors: Maria Francelina
authors: MF
authors: Lopes
mesh_terms: D001483:Base Sequence; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003082:Colectomy; D057210:Delayed Diagnosis; D005819:Genetic Markers; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D005819:Genetic Markers; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human