Huang ZH, Song Z, Zhang P, Wu J, Huang Y. Clinical features, endoscopic polypectomy and
STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant.
World J Gastroenterol 2016;
22:3261-3267. [PMID:
27004004 PMCID:
PMC4790002 DOI:
10.3748/wjg.v22.i11.3261]
[Citation(s) in RCA: 8] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/08/2015] [Revised: 11/01/2015] [Accepted: 12/08/2015] [Indexed: 02/06/2023] Open
Abstract
AIM: 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.
CONCLUSION: 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.
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