Pan-limb Plexiform Neurofibroma-Hypothesis of Pathogenesis and Its Surgical Strategy

全上肢叢性神經纖維瘤(Pan-limb plexiform neurofibrom)－病生理學假說及外科治療方針

黃嫆茹(Jung-Ju Huang) ； 莊垂慶(David Chwei-Chin Chuang)

《中華民國整形外科醫學會雜誌》 16卷3期 (2007/09) Pp. 266-279

https://doi.org/10.7096/JPSA.200709.0266

摘要

叢性神經纖維瘤(Plexiform neurofibroma)為一多發且散在性之良性周邊神經鞘瘤。通常與NF-1並行發生。發生於臂神經叢是相當罕見的。至於產生於整個上肢，即以頸椎神經、臂神經叢至臂神經叢末枝之多發性腫瘤節結來表現者更是稀少。在此，我們報告兩例臨床表現相似病例：散在性腫瘤，身上多處咖啡牛奶斑(café-au-lait spots)及上肢之嚴重神經功能缺損。其一例在年紀相當小時便病發且接受治療，另一例則病發於童年晚期。
病例一：二十八歲女性，有Von Recklinghausen's disease病史，求診時之表現為多發而散在性左上肢腫瘤，以及左上肢無力。患者於十四歲病發，開始接受治療。病例二：三歲男孩，右頸部腫瘤，近一年來發現漸進式右肩下垂及肘曲屈無力。兩位患者皆接受頸椎神經減壓手術及周邊神經腫瘤切除與重建手術。其一接受神經移植手術，另一例為韌帶轉移手術重建。
我們以臨床表現與術中發現作為基礎，建立此腫瘤生成與生長之假說，名之“鄰近傳遞”(Neighboring transmission)。雖罕見，一旦發生，便造成極大之神經功能障礙，同時對整型重建醫師亦是一大考驗。早期全切除相信是阻止腫瘤繼續發生唯一且有效之方式，重建則依臂神經叢損傷重建原則，神經轉移、韌帶轉移、游離功能性肌肉皮瓣皆有其角色與功用。

並列摘要

Plexiform neurofibroma is a multi-nodular and diffuse benign peripheral nerve sheath tumor and is usually associated with neurofibromatosis type 1. Plexiform neurofibroma of the brachial plexus is rare. Plexiform neurofibroma of the whole upper limb, presenting with multiple nodular tumor masses from cervical nerve roots along the course of the brachial plexus and at the termination of the peripheral nerves is especially rare. Here we report two cases of pan-limb plexiform neurofibroma with similarity in symptoms and signs: diffuse nerve tumor masses, cutaneous pigmentation (café-au-lait spots) and severe neurological deficits of the upper limb.
Case 1, a 28-years-old lady with Von Recklinghausen's disease presented with diffuse swelling and weakness of the left upper limb. Case 2, a 3-years- old boy, presented with multiple masses over the right neck with dropped shoulder and progressive inability to flex his elbow over the duration of one year. Both of them received cervical spine surgery for cord decompression and peripheral nerve surgeries for the limb tumor growth. They both had multiple nerve tumors resection and received palliative reconstruction: by tendon transfer and nerve transfer.
Based on the clinical and intraoperative findings of these two cases, we made our hypothesis in tumor genesis and progression. ”Neighboring transmission” in such ”pan-limb” plexiform neurofibroma is proposed. Although it is rare, once it develops, it often results in severe neurological deficits and is a big challenge to the surgeon for both tumor resection and reconstruction. Early radical excision to prevent pathological neurogenic tumor spreading is probably one of the best choices of treatment. Late reconstruction by tendon, muscle, or nerve transfer, similar to the treatment of brachial plexus injuries is then supplemented.

並列關鍵字

plexiform neurofibroma ； brachial plexus