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一例成年唐氏综合征患者患胆囊癌的罕见病例报告。

A rare case report of an adult with down syndrome and gallbladder cancer.

作者信息

Rais Kaouthar, El Moutaoukil Najoua, El Eulj Oumayma, Zazour Abdelkrim, Kharrasse Ghizlane, Kamaoui Imane, Khannoussi Wafaa, Ismaili My Zahi

机构信息

Department of Hepato-gastroenterology, Mohammed VI University Hospital Center, Digestive Disease Research Laboratory, Medical School, Mohammed I University, Oujda, 60000, Morocco.

Department of Radiology, Mohammed VI University Hospital Center, Digestive Disease Research Laboratory, Medical School, Mohammed I University, Oujda, 60000, Morocco.

出版信息

Ann Med Surg (Lond). 2022 Jun 20;79:104025. doi: 10.1016/j.amsu.2022.104025. eCollection 2022 Jul.

Abstract

INTRODUCTION

The most frequent malignancies observed on adult with Down syndrome are lymphoblastic and myeloblastic leukemia. The incidence and the relationship between gallbladder cancer and Down syndrome is unknown.

CASE PRESENTATION

We report a rare case of a 25-year-old male with Down syndrome who consulted to the emergency because of deterioration in overall health associated with post-meal food vomiting, abdominal distension and diffuse abdominal pain. CECT scan reveal suspicious locally advanced parietal tissue thickening of the gallbladder, associated with peritoneal carcinosis, and a bilateral massive pulmonary embolism, in addition to a large bilateral pleurisy and moderate pericardial effusion. The patient died three weeks later.

DISCUSSION

Solid tumors are rare among population with Down syndrome, especially gallbladder cancer.

MAIN RISK FACTORS ARE

cholelithiasis and gallbladder abnormalities, which are frequent in these patients. Management of this lethal disease depends on precocity of diagnosis. For this we suggest an abdominal ultrasound in children with DS to screen previously cholelithiasis and prevent this fatal cancer.

CONCLUSION

Some Authors found that the rate of gallbladder disease especially cholelithiasis, was 25% among Down syndrome group, compared to 4.5% among the control group (p = 0.002). We suggest that cholelithiasis is the main risk factor of gallbladder cancer in this population. However, other prospective studies should be accomplished so as to confirm this outcome.

摘要

引言

成年唐氏综合征患者中最常见的恶性肿瘤是淋巴细胞白血病和髓细胞白血病。胆囊癌与唐氏综合征之间的发病率及关系尚不清楚。

病例报告

我们报告一例罕见病例,一名25岁患有唐氏综合征的男性因餐后食物呕吐、腹胀和弥漫性腹痛导致整体健康状况恶化而前往急诊就诊。CT增强扫描显示胆囊壁局部可疑增厚,伴有腹膜转移癌,以及双侧大面积肺栓塞,此外还有双侧大量胸膜炎和中度心包积液。患者三周后死亡。

讨论

实体瘤在唐氏综合征人群中很少见,尤其是胆囊癌。

主要危险因素有

胆石症和胆囊异常,这些在这些患者中很常见。这种致命疾病的治疗取决于诊断的早熟性。为此,我们建议对唐氏综合征患儿进行腹部超声检查,以筛查先前的胆石症并预防这种致命癌症。

结论

一些作者发现,唐氏综合征组胆囊疾病尤其是胆石症的发生率为25%,而对照组为4.5%(p = 0.002)。我们认为胆石症是该人群胆囊癌的主要危险因素。然而,应完成其他前瞻性研究以证实这一结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d46/9289425/c21891b7ef34/gr1.jpg

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