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1型神经纤维瘤病相关的快速生长恶性外周神经鞘膜瘤:康复医师的病例报告

Rapidly Growing Malignant Peripheral Nerve Sheath Tumors Arising From Neurofibromatosis Type 1: A Case Report by Rehabilitation Physicians.

作者信息

Hayashi Koji, Nakaya Yuka, Miura Toyoaki, Suzuki Asuka, Maeda Hiroaki, Sato Mamiko, Kobayashi Yasutaka

机构信息

Department of Rehabilitation Medicine, Fukui General Hospital, Fukui, JPN.

Graduate School of Health Science, Fukui Health Science University, Fukui, JPN.

出版信息

Cureus. 2025 Mar 3;17(3):e79995. doi: 10.7759/cureus.79995. eCollection 2025 Mar.

Abstract

We describe a case of a 40-year-old Japanese woman with rapidly growing malignant peripheral nerve sheath tumors (MPNSTs) arising from neurofibromatosis type 1 (NF-1). The patient presented numbness in both legs, back pain, and gait disturbances. Magnetic resonance imaging (MRI) revealed a spinal tumor at the thoracic level. To resolve her symptoms, a laminectomy and intradural tumor resection were performed. The tumor was diagnosed as a neurofibroma with no malignant characteristics. After the surgery, she participated in a rehabilitation program aimed at promoting independence in daily activities and enhancing muscle strength. Initially, her walking ability showed improvement; however, she soon experienced complications, including challenges with bowel movements and a gradual decline in her walking function. A follow-up MRI on the 67th day post-surgery showed tumor regrowth that necessitated reoperation. After the surgery, the neurological symptoms improved temporarily, but they worsened again, ultimately leading to a shift to palliative care and her demise several days later. This case underscores the challenges in pathological diagnosis and the aggressive nature of MPNSTs, emphasizing the need for vigilant monitoring and timely intervention. Despite initial surgical success, rapid tumor growth can occur during rehabilitation, highlighting the importance of a multidisciplinary approach for accurate diagnosis and treatment. Early detection of tumor progression through meticulous neurological monitoring and prompt surgical consultation are critical for optimal outcomes. Further research into more definitive diagnostic tools and effective treatment strategies for MPNSTs is crucial to improve patient care.

摘要

我们描述了一例40岁的日本女性病例,其患有源自1型神经纤维瘤病(NF-1)的快速生长的恶性外周神经鞘瘤(MPNST)。患者出现双腿麻木、背痛和步态障碍。磁共振成像(MRI)显示胸椎水平有一个脊柱肿瘤。为缓解其症状,进行了椎板切除术和硬膜内肿瘤切除术。肿瘤被诊断为无恶性特征的神经纤维瘤。手术后,她参加了一个旨在促进日常活动独立性和增强肌肉力量的康复项目。最初,她的行走能力有所改善;然而,她很快出现了并发症,包括排便困难和行走功能逐渐下降。术后第67天的随访MRI显示肿瘤复发,需要再次手术。手术后,神经症状暂时改善,但又再次恶化,最终导致转向姑息治疗,几天后患者死亡。该病例强调了病理诊断的挑战以及MPNST的侵袭性,强调了警惕监测和及时干预的必要性。尽管最初手术成功,但在康复过程中肿瘤仍可能快速生长,突出了多学科方法对于准确诊断和治疗的重要性。通过细致的神经学监测早期发现肿瘤进展并及时进行手术咨询对于获得最佳结果至关重要。对MPNST更明确的诊断工具和有效治疗策略进行进一步研究对于改善患者护理至关重要。

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