Ovechkin Denys, Awuah Wireko Andrew, Wellington Jack, Adebusoye Favour Tope, Moskalenko Roman, Dmytruk Serhii, Abdul-Rahman Toufik, Ovechkina Yaryna
Sumy State University, Sumy, Ukraine.
Cardiff University School of Medicine, Cardiff University, Wales, UK.
Ann Med Surg (Lond). 2023 Apr 14;85(5):2216-2220. doi: 10.1097/MS9.0000000000000675. eCollection 2023 May.
Peutz-Jeghers syndrome (PJS), an uncommon inherited autosomal dominant disorder, is distinguished by mucocutaneous pigmentations, many gastrointestinal hamartomatous polyps, and a higher incidence of gastrointestinal tract, genitourinary, and extracolonic malignancies. Recurrent acute intestinal obstruction, in particular intussusception in the young, is a serious sequalae of PJS.
A clinical observation of a 5-year-old patient with a complicated course of PJS is presented. Emphasis on recurring episodes of acute abdomen, clinical diagnosis including polyp histopathology, and surgical management is emphasised.
While an inpatient, bloodwork demonstrated severe iron deficiency anaemia (haemoglobin 72 g/l, red blood cell 3.1×1012/l) and multiple melanin pigmentations measuring 2-4 mm in size on the lip mucosa during a physical examination. Erosive duodenopathy and polyposis of the stomach were discovered via fibroesophagogastroduodenoscopy (multiple gastric polyps 5-10 mm in size). Acute intussusception of the intestine was discovered by ultrasonography.
A mid-median laparotomy was performed alongside manual disinvagination with gut viability intact. Histopathology of excised polyps revealed smooth muscle hyperplasia and Ki67 protein (MIB-1) positivity with small intestinal hamartomatous polyps seen macroscopically. Conservative management was initiated for standard postoperative care and intestinal motility. Patient was discharged 9 days postoperatively.
Based on literature data, modern ideas concerning aetiology, diagnosis, and management of patients with PJS are considered. Attention is focused on the high risk of developing cancer of various localisation in PJS, recommendations are given for cancer screening and clinical observation of patients with hereditary gastrointestinal syndromes in childhood.
黑斑息肉综合征（PJS）是一种罕见的常染色体显性遗传性疾病，其特征为黏膜皮肤色素沉着、多发胃肠道错构瘤性息肉，以及胃肠道、泌尿生殖系统和结肠外恶性肿瘤的发病率较高。反复急性肠梗阻，尤其是儿童肠套叠，是PJS的严重后遗症。
介绍了一名5岁PJS复杂病程患者的临床观察情况。重点强调了反复出现的急腹症发作、包括息肉组织病理学的临床诊断以及手术治疗。
住院期间，血液检查显示严重缺铁性贫血（血红蛋白72g/l，红细胞3.1×10¹²/l），体格检查时发现唇黏膜有多个大小为2 - 4mm的黑色素沉着。通过纤维食管胃十二指肠镜检查发现糜烂性十二指肠病和胃息肉病（多个大小为5 - 10mm的胃息肉）。超声检查发现急性肠套叠。
进行了正中剖腹术，并手动复位，肠道活力完好。切除息肉的组织病理学显示平滑肌增生和Ki67蛋白（MIB - 1）阳性，肉眼可见小肠错构瘤性息肉。术后开始进行标准的保守治疗和肠道动力恢复。患者术后9天出院。
基于文献数据，考虑了关于PJS患者病因、诊断和治疗的现代观点。关注重点在于PJS患者发生各种部位癌症的高风险，给出了儿童遗传性胃肠道综合征患者癌症筛查和临床观察的建议。
