Khatiwada Abhikanta, K C Sharada, Bastakoti Aashish, Koirala Bibek, Yadav Aalok Kumar
Department of Radiology, Tribhuvan University Teaching Hospital, Nepal.
Department of Internal Medicine, NAIHS, Nepal.
Radiol Case Rep. 2024 Jun 17;19(9):3710-3714. doi: 10.1016/j.radcr.2024.05.062. eCollection 2024 Sep.
Schwannomatosis is a rare neurocutaneous syndrome characterized by the presence of multiple schwannomas along the peripheral nerves, distinctly excluding the vestibular nerves. It is recognized as the third principal form of neurofibromatosis, alongside neurofibromatosis types 1 and 2. In this report, we discuss the case of a 45-year-old woman who initially sought medical attention for low back pain and swelling in her left axilla. Her magnetic resonance imaging revealed multiple enhancing intradural extramedullary lesions, along with a mass in the right upper thoracic region and another in the left axilla, raising suspicions of metastasis. However, a comprehensive analysis that aligned imaging results with histopathological findings confirmed the diagnosis of schwannomatosis. This case highlights the importance of differentiating between various conditions that can cause multiple intradural extramedullary masses, such as nerve sheath tumors, meningiomas, and metastasis. The presence of multiple schwannomas suggests a diagnosis of either neurofibromatosis type 2 or schwannomatosis, making the distinction between these two conditions critical for appropriate management.
神经鞘瘤病是一种罕见的神经皮肤综合征,其特征是沿周围神经存在多个神经鞘瘤,明显不包括前庭神经。它被认为是神经纤维瘤病的第三种主要形式,与1型和2型神经纤维瘤病并列。在本报告中,我们讨论了一名45岁女性的病例,她最初因腰痛和左腋窝肿胀而就医。她的磁共振成像显示多个强化的硬膜内髓外病变,以及右上胸区域和左腋窝各有一个肿块,这引发了转移的怀疑。然而,将影像学结果与组织病理学发现相结合的综合分析证实了神经鞘瘤病的诊断。该病例突出了区分可导致多个硬膜内髓外肿块的各种病症的重要性,如神经鞘瘤、脑膜瘤和转移瘤。多个神经鞘瘤的存在提示2型神经纤维瘤病或神经鞘瘤病的诊断,因此区分这两种病症对于恰当的治疗至关重要。