1例黑斑息肉综合征合并空肠套叠梗阻病例报道

doi:10.3969/j.issn.1674-8115.2021.08.023

上海交通大学学报(医学版) ›› 2021, Vol. 41 ›› Issue (8): 1129-1132.doi: 10.3969/j.issn.1674-8115.2021.08.023

• 病例报告 • 上一篇

1例黑斑息肉综合征合并空肠套叠梗阻病例报道

罗明旺¹(), 张兆祺²(), 卫媛¹, 闫文帝³, 严东旺²()

^1.四川省凉山彝族自治州攀钢西昌医院普外科，西昌 615012
^2.上海交通大学附属第一人民医院普外科，上海 200080
^3.上海交通大学附属第一人民医院病理科，上海 200080

出版日期:2021-08-28 发布日期:2021-07-28
通讯作者: 严东旺 E-mail:1253231402@qq.com;yandw70@163.com
作者简介:罗明旺（1992—），男，住院医师，学士；电子信箱：1253231402@qq.com
罗明旺（1992—），男，住院医师，学士；电子信箱：1253231402@qq.com
基金资助:
国家自然科学基金(81871931)

A case report of Peutz-Jeghers syndrome with jejunal intussusception

Ming-wang LUO¹(), Zhao-qi ZHANG²(), Yuan WEI¹, Wen-di YAN³, Dong-wang YAN²()

^1.Department of General Surgery, Pangang Xichang Hospital, Liangshan Yi Autonomous Prefecture of Sichuan Province, Xichang 615012, China
^2.Department of General Surgery, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai 200080, China
^3.Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai 200080, China

Online:2021-08-28 Published:2021-07-28
Contact: Dong-wang YAN E-mail:1253231402@qq.com;yandw70@163.com
Supported by:
National Natural Science Foundation of China(81871931)

摘要/Abstract

摘要：

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

Abstract:

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.

Key words: Peutz-Jeghers syndrome (PJS), intussusception, familial adenomatous polyposis

中图分类号:

R656.7

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.

Ming-wang LUO, Zhao-qi ZHANG, Yuan WEI, Wen-di YAN, Dong-wang YAN. A case report of Peutz-Jeghers syndrome with jejunal intussusception[J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(8): 1129-1132.

图/表 5

图1 患者口唇处黑斑Note：Scattered dot-like dark spots on the lips, about 1?4 mm, with clear boundaries and without fusion and fading under pressure.

Fig 1 Black spots on the patient′s lips

图2 术前腹部CTNote：A. Space-occupying lesion positioned at descending duodenum. B. The "concentric circles" sign as indicated by the arrow, which shows intussusception.

Fig 2 Preoperative abdominal CT

图3 术中切开肠管并完整剥离息肉

Fig 3 Cutting the intestine and completely stripping the polyps during the operation

图4 术后检视标本

Fig 4 Postoperative inspection of specimens

图5 术后病理组织切片H-E染色Note：A/B. Smooth muscle bundles in the interstitium, distributed in a dendritic manner, and interspersed between the glands. C/D. Clusters and papillary growth of glands.

Fig 5 H-E staining of postoperative pathological section

参考文献 22

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.

1例黑斑息肉综合征合并空肠套叠梗阻病例报道

A case report of Peutz-Jeghers syndrome with jejunal intussusception

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