Ahmed Amna, Alsaleem Badr
Pediatric Gastroenterology and Hepatology Division, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Case Rep Pediatr. 2017;2017:5321860. doi: 10.1155/2017/5321860. Epub 2017 Mar 27.
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.
青少年息肉病综合征（JPS）是一种罕见的常染色体显性遗传性疾病，其特征为胃肠道出现多个青少年息肉且患结直肠癌的风险增加。JPS最常见的病因是SMAD4或BMPR1A基因发生突变。在此，我们报告一名患有青少年息肉病综合征（JPS）且SMAD4基因存在新突变的儿童。一名8岁男孩因反复直肠出血就诊，检查发现整个结肠有多个息肉。切除息肉的组织学检查结果与青少年息肉相符。随后的基因筛查发现SMAD4基因第5外显子存在一个新突变（p.Ser144Stop）。据我们所知，此前尚未报道过这种突变。为JPS患者提供基因诊断是管理策略规划的重要一步。
