Peutz-Jeghers综合征(PJS),一种罕见的遗传性常染色体显性疾病,以皮肤粘膜色素沉着为特征,许多胃肠道错构瘤息肉,胃肠道的发病率较高,泌尿生殖系统,和结肠外恶性肿瘤。复发性急性肠梗阻,尤其是年轻人的肠套叠,是严重的PJS后遗症。
■介绍了一名患有复杂PJS病程的5岁患者的临床观察。强调急腹症的反复发作,临床诊断包括息肉组织病理学,强调手术管理。
■在住院期间,血液检查显示严重的缺铁性贫血(血红蛋白72克/升,红细胞3.1×1012/l)和体格检查期间唇粘膜上大小为2-4mm的多种黑色素色素沉着。通过纤维食管胃十二指肠镜检查发现了糜烂性十二指肠病和胃息肉病(大小为5-10毫米的多发性胃息肉)。通过超声检查发现了急性肠套叠。
■在肠道生存力完整的情况下,进行了正中剖腹手术,同时进行了手动减压。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息肉。开始对标准的术后护理和肠道运动进行保守管理。患者术后9天出院。
■根据文献数据,关于病因学的现代观念,诊断,并考虑对PJS患者的管理。注意力集中在PJS中发生各种定位癌症的高风险上,建议对儿童遗传性胃肠道综合征患者进行癌症筛查和临床观察。
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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.