网络出版日期: 2021-07-28
基金资助
国家自然科学基金(81871931)
A case report of Peutz-Jeghers syndrome with jejunal intussusception
Online published: 2021-07-28
Supported by
National Natural Science Foundation of China(81871931)
患者女性，16岁，因“反复下腹痛1年，复发伴加重10 d”就诊。体格检查发现：患者口唇有散在点状黑斑，直径1~4 mm，界限清，不融合，压之不褪色；左上腹压痛。进一步完善实验室检查和影像学检查，以“1. 肠套叠；2. 肠道多发息肉；3. 黑斑息肉综合征可能性大”收治入院。入院后行剖腹探查＋十二指肠、空肠息肉切除术，术后明确诊断为黑斑息肉综合征。黑斑息肉综合征是一种临床罕见病，具有皮肤黏膜色素沉着、胃肠道多发性息肉及家族遗传倾向三大典型特征。介绍该病例的临床资料可提高对黑斑息肉综合征的再认识，为后续同类患者的诊断和治疗提供参考，减少紧急手术和短肠综合征的发生。
关键词： 黑斑息肉综合征; 肠套叠; 家族性腺瘤性肠息肉病
罗明旺 , 张兆祺 , 卫媛 , 闫文帝 , 严东旺 . 1例黑斑息肉综合征合并空肠套叠梗阻病例报道[J]. 上海交通大学学报（医学版）, 2021 , 41(8) : 1129 -1132 . DOI: 10.3969/j.issn.1674-8115.2021.08.023
A female patient, 16-year-old, presented ??recurrent lower abdominal pain for one year, recurrence and aggravation for 10 days''. Physical examination revealed that the patient's lips had dot-like dark spots, 1?4 mm in diameter, with clear boundaries and without fusion and fading under pressure, and there was tenderness in the upper left abdomen. The laboratory and imaging examinations were further completed and the patient was admitted to hospital with ??1. intussusception; 2. multiple polyps in the intestine; 3. likely Peutz-Jeghers syndrome (PJS)''. After admission, laparotomy was performed for duodenal and jejunal polyp resection, and the postoperative diagnosis was PJS. PJS is a clinically rare disease with three typical characteristics: skin and mucous membrane pigmentation, multiple polyps in the gastrointestinal tract, and family genetic tendency. The clinical data of this case are introduced to improve the understanding of PJS, provide reference for the following diagnosis and treatment of similar patients, and reduce the occurrence of emergency surgery and short bowel syndrome.
| 1 | Lorans M, Dow E, MacRae FA, et al. Update on hereditary colorectal cancer: improving the clinical utility of multigene panel testing[J]. Clin Colorectal Cancer, 2018, 17(2): e293-e305. |
| 2 | Kopacova M, Tacheci I, Rejchrt S, et al. Peutz-Jeghers syndrome: diagnostic and therapeutic approach[J]. World J Gastroenterol, 2009, 15(43): 5397-5408. |
| 3 | Thakker HH, Joshi A, Deshpande A. Peutz-Jegher's syndrome presenting as jejunoileal intussusception in an adult male: a case report[J]. Cases J, 2009, 2: 8865. |
| 4 | Signoretti M, Bruno MJ, Zerboni G, et al. Results of surveillance in individuals at high-risk of pancreatic cancer: a systematic review and meta-analysis[J]. United European Gastroenterol J, 2018, 6(4): 489-499. |
| 5 | Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome[J]. J Med Genet, 1997, 34(12): 1007-1011. |
| 6 | Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome [J]. Clin Cancer Res, 2006, 12(10): 3209-3215. |
| 7 | van Lier MG, Wagner A, Mathus-Vliegen EM, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations[J]. Am J Gastroenterol, 2010, 105(6): 1258-1264; author reply 1265. |
| 8 | Latchford A, Greenhalf W, Vitone LJ, et al. Peutz-Jeghers syndrome and screening for pancreatic cancer[J]. Br J Surg, 2006, 93(12): 1446-1455. |
| 9 | Rufener SL, Koujok K, McKenna BJ, et al. Small bowel intussusception secondary to Peutz-Jeghers polyp[J]. RadioGraphics, 2008, 28(1): 284-288. |
| 10 | 中华人民共和国国家卫生健康委员会. 中国结直肠癌诊疗规范(2020年版)[J]. 中华外科杂志, 2020, 58(8): 561-585. |
| 11 | Nasri S, Kellil T, Chaouech MA, et al. Intestinal intussusception in Peutz Jeghers syndrome: a case report[J]. Ann Med Surg (Lond), 2020, 54: 106-108. |
| 12 | Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management[J]. Gut, 2010, 59(7): 975-986. |
| 13 | Utsunomiya J, Gocho H, Miyanaga T, et al. Peutz-Jeghers syndrome: its natural course and management[J]. Johns Hopkins Med J, 1975, 136(2): 71-82. |
| 14 | Wang H, Luo T, Liu WQ, et al. Clinical presentations and surgical approach of acute intussusception caused by Peutz-Jeghers syndrome in adults[J]. J Gastrointest Surg, 2011, 15(12): 2218-2225. |
| 15 | Kalliakmanis V, Perysinakis I, Koutsouvas K, et al. Massive intussusception caused by a solitary Peutz-Jeghers type hamartomatous polyp[J]. Ann R Coll Surg Engl, 2018, 100(4): e91-e93. |
| 16 | Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes[J]. Am J Gastroenterol, 2015, 110(2): 223-262; quiz 263. |
| 17 | 张同真, 肖年军, 孙涛, 等. 气囊辅助小肠镜治疗Peutz-Jeghers综合征小肠息肉肠套叠的临床探讨[J]. 天津医药, 2020, 48(5): 426-429. |
| 18 | Ondhia MN, Al-Mutawa Y, Harave S, et al. Intussusception: a 14-year experience at a UK tertiary referral centre[J]. J Pediatr Surg, 2020, 55(8): 1570-1573. |
| 19 | Rossi DJ, Ylikorkala A, Korsisaari N, et al. Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposis[J]. Proc Natl Acad Sci USA, 2002, 99(19): 12327-12332. |
| 20 | McGarrity TJ, Peiffer LP, Amos CI, et al. Overexpression of cyclooxygenase 2 in hamartomatous polyps of Peutz-Jeghers syndrome[J]. Am J Gastroenterol, 2003, 98(3): 671-678. |
| 21 | Wangler MF, Chavan R, Hicks MJ, et al. Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome[J]. J Pediatr Hematol Oncol, 2013, 35(4): 323-328. |
| 22 | Rebsdorf Pedersen I, Hartvigsen A, Fischer Hansen B, et al. Management of Peutz-Jeghers syndrome. experience with patients from the Danish polyposis register[J]. Int J Colorectal Dis, 1994, 9(4): 177-179. |
/
| 〈 |
|
〉 |