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一名唐氏综合征青少年女性出现罕见的迟发性肥厚性幽门狭窄:病例报告及文献复习。

Unusual late-onset hypertrophic pyloric stenosis in an adolescent girl with down syndrome: Case report and review of the literature.

机构信息

Division of Pediatric Surgery, Federico II University Hospital, Naples, Italy.

Division of Internal Medicine, Federico II University Hospital, Naples, Italy.

出版信息

J Clin Ultrasound. 2024 Nov-Dec;52(9):1456-1462. doi: 10.1002/jcu.23777. Epub 2024 Aug 3.

DOI:10.1002/jcu.23777
PMID:39096100
Abstract

A 16-year-old girl with down syndrome came to our attention for recurrent postprandial vomiting and significant weight loss (>5 kgs). Diagnostic assessment (barium swallow study, ultrasonography, and CT) confirmed hypertrophic pyloric stenosis (HPS). Initial attempt with endoscopic dilation was not successful. The patient underwent Heineke-Mikulicz pyloroplasty. Full oral feeding was achieved by Day 7 postoperatively. At 6-month follow-up, the patient reported relief of symptoms, normal feeding habits and substantial weight gain. HPS should be considered in the differential diagnosis of recurrent vomiting, regardless of age. A comprehensive diagnostic work-up, including ultrasonography, endoscopy, and CT, is recommended to confirm the diagnosis.

摘要

一位 16 岁的唐氏综合征女孩因反复餐后呕吐和明显体重减轻(>5 公斤)引起我们的注意。诊断评估(钡餐研究、超声和 CT)证实为肥厚性幽门狭窄(HPS)。内镜扩张的初步尝试未成功。患者接受了海涅克-米库利兹幽门成形术。术后第 7 天患者实现了完全口服喂养。在 6 个月的随访中,患者报告症状缓解,正常进食习惯和显著体重增加。无论年龄大小,反复呕吐都应考虑 HPS 作为鉴别诊断。建议进行全面的诊断性检查,包括超声、内镜和 CT,以确认诊断。

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