title: Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant.
abstract: OBJECTIVE
  To investigate multiple polyps in a Chinese Peutz-Jeghers syndrome (PJS) infant.
  
  
  METHODS
  A nine-month-old PJS infant was admitted to our hospital for recurrent prolapsed rectal polyps for one month. The clinical characteristics, a colonoscopic image, the pathological characteristics of the polyps and X-ray images of the intestinal perforation were obtained. Serine threonine-protein kinase 11 (STK11) gene analysis was also performed using a DNA sample from this infant.
  
  
  RESULTS
  Here we describe the youngest known Chinese infant with PJS. Five polyps, including a giant polyp of approximately 4 cm × 2 cm in size, were removed from the infant's intestine. Laparotomy was performed to repair a perforation caused by pneumoperitoneum. The pathological results showed that this child had PJS. Molecular analysis of the STK11 gene further revealed a novel frameshift mutation (c.64_65het_delAT) in exon 1 in this PJS infant.
  
  
  CONCLUSIONS
  The appropriate treatment method for multiple polyps in an infant must be carefully considered. Our results also show that the STK11 gene mutation is the primary cause of PJS.
authors.affiliation: Zhi-Heng Huang, Jie Wu, Ying Huang, Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Zhi-Heng
authors.initials: ZH
authors.lastname: Huang
authors.affiliation: Zhi-Heng Huang, Jie Wu, Ying Huang, Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Zai
authors.initials: Z
authors.lastname: Song
authors.affiliation: Zhi-Heng Huang, Jie Wu, Ying Huang, Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Zhang
authors.affiliation: Zhi-Heng Huang, Jie Wu, Ying Huang, Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Wu
authors.affiliation: Zhi-Heng Huang, Jie Wu, Ying Huang, Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Huang
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D001706:Biopsy; D003113:Colonoscopy; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D007417:Intestinal Polyps / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D010580:Peutz-Jeghers Syndrome / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012004:Rectal Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D016896:Treatment Outcome; D047368:Tumor Burden
chemical_list: D005819:Genetic Markers; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
keywords: Chinese infant; Perforation; Peutz-Jeghers syndrome; Polyps; STK11 gene