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小肠孤立性复杂性神经纤维瘤:一例报告

Solitary and complicated neurofibroma of small Bowel: A case report.

作者信息

Ait Ali Hassane, Zeriouh Brahim, Egyir Ebo Usman, Serji Badr, Elharroudi Tijani

机构信息

Department of Oncological Surgery, Mohamed VI University Hospital Center, Oujda, Morocco.

Department of Oncological Surgery, Mohamed VI University Hospital Center, Oujda, Morocco.

出版信息

Int J Surg Case Rep. 2021 Jan;78:126-129. doi: 10.1016/j.ijscr.2020.12.020. Epub 2020 Dec 9.

Abstract

INTRODUCTION

Neurofibromatosis is a genetic disorder characterized by tumors and pigmentary changes on the skin, such as spots that color leans to 'White Coffee'. Neurofibromas of the gastrointestinal tract are commonly associated with neurofibromatosis type I (NF1). Although, digestive involvement can be the single manifestation of the disease and may consequently; represent the only diagnostic element.

PRESENTATION OF CASE

We report here; a case of a patient admitted to the emergency department with a bowel obstruction, for which radiological investigations revealed the presence of intussusception due to an intestinal tumor. The patient underwent a bowel resection with anastomosis, and then, after being examined histologically, the result has identified an intestinal neurofibroma without evidence of malignancy. Then and on the fourth day following the surgery, the patient was discharged with good clinical improvement.

DISCUSSION

The intestinal neurofibroma may be the first and the only manifestation of neurofibromatosis type I. Also, it's uncommon to present a neurofibroma isolated from the small bowel with an intussusception, which makes the pre-surgical diagnosis very difficult. And until now, only a few case reports of these conditions have been reported.

CONCLUSION

We report this uncommon clinical case of an isolated neurofibroma from the small bowel to raise awareness among the medical team about this exceptional pathology. Nevertheless, its risk of developing serious complications and malignant transformation led us to opt for earlier surgical treatment. Furthermore, it requires a close clinical follow-up to eliminate the neurofibromatosis type I or the multiple endocrine neoplasia type II.

摘要

引言

神经纤维瘤病是一种遗传性疾病,其特征为皮肤上出现肿瘤和色素沉着变化,如颜色倾向于“淡咖啡”色的斑点。胃肠道神经纤维瘤通常与I型神经纤维瘤病(NF1)相关。尽管如此,消化系统受累可能是该疾病的唯一表现,因此可能是唯一的诊断依据。

病例介绍

我们在此报告一例因肠梗阻入住急诊科的患者,放射学检查显示肠梗阻是由肠道肿瘤引起的肠套叠所致。患者接受了肠切除吻合术,术后经组织学检查,结果确诊为肠道神经纤维瘤,无恶性证据。术后第四天,患者临床症状明显改善后出院。

讨论

肠道神经纤维瘤可能是I型神经纤维瘤病的首发且唯一表现。此外,孤立的小肠神经纤维瘤伴肠套叠并不常见,这使得术前诊断非常困难。到目前为止,仅有少数关于这些情况的病例报告。

结论

我们报告了这例罕见的孤立性小肠神经纤维瘤临床病例,以提高医疗团队对这种特殊病理情况的认识。然而,其发生严重并发症和恶变的风险促使我们选择早期手术治疗。此外,需要密切的临床随访以排除I型神经纤维瘤病或II型多发性内分泌肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c674/7750123/14eec93d3943/gr1.jpg

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