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局限性喉淀粉样变性:儿科患者的罕见诊断。病例报告。

Localized laryngeal amyloidosis: an unusual diagnosis in pediatric patients. Case report.

作者信息

Pardo Jadue Javiera, Ramírez Pelayo Camila, Lanas Volz Andrés

机构信息

Department of Otolaryngology, Clínica Universidad de los Andes, Santiago, Chile.

出版信息

Eur Arch Otorhinolaryngol. 2025 May 21. doi: 10.1007/s00405-025-09444-3.

Abstract

PURPOSE

The primary objective of this study was to present a rare case of localized laryngeal amyloidosis in a pediatric patient, a condition with only 18 documented cases worldwide in individuals under eighteen years of age. Furthermore, it compares the diagnostic approach and management of this case with those outlined in the limited existing literature.

METHODS

A 10-year-old male patient presented with progressively worsening dysphonia. Clinical evaluation included nasofibroscopy, contrast-enhanced CT imaging, and histopathological examination of resected tissue. The histological diagnosis was confirmed using Congo red staining. Additional tests were conducted to rule out systemic amyloidosis, including serum biochemistry and echocardiogram. The patient was followed for three years postoperatively.

RESULTS

The patient was diagnosed with localized laryngeal amyloidosis, confirmed through histopathological analysis. Surgical management included a partial excision using cold dissection, followed by complete macroscopic resection with CO2 laser. Postoperative recovery showed minimal dysphonia with no dyspnea. Follow-up evaluations, including nasofibroscopy, revealed no significant recurrence of disease after three years, with only a small right posterior leukoplakia, interpreted as an impact-related lesion.

CONCLUSION

Localized laryngeal amyloidosis is an rare condition in pediatric patients. Early diagnosis is critical, and surgical management via transoral endoscopic resection is effective in improving symptoms. Regular follow-up is necessary due to the high likelihood of recurrence, especially within the first five years.

摘要

目的

本研究的主要目的是报告一例小儿局限性喉淀粉样变性罕见病例,该病在全球18岁以下个体中仅有18例文献记载。此外,将该病例的诊断方法和治疗与现有有限文献中概述的方法进行比较。

方法

一名10岁男性患者出现进行性加重的发音困难。临床评估包括鼻纤维镜检查、增强CT成像以及切除组织的组织病理学检查。组织学诊断通过刚果红染色得以证实。还进行了其他检查以排除系统性淀粉样变性,包括血清生化检查和超声心动图检查。术后对患者进行了三年随访。

结果

患者被诊断为局限性喉淀粉样变性,经组织病理学分析得以证实。手术治疗包括使用冷刀部分切除,随后用二氧化碳激光进行完整的肉眼切除。术后恢复显示发音困难轻微,无呼吸困难。包括鼻纤维镜检查在内的随访评估显示,三年后疾病无明显复发,仅右侧后部有一小片白斑,被解释为与撞击相关的病变。

结论

局限性喉淀粉样变性在小儿患者中是一种罕见疾病。早期诊断至关重要,经口内镜切除的手术治疗对改善症状有效。由于复发可能性高,尤其是在头五年内,定期随访是必要的。

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