Bhandari Hardik, Dahal Alok, Khadka Grishma
Department of Neurosurgery, BP Koirala Institute of Health Sciences, Dharan, Nepal.
Ann Med Surg (Lond). 2024 Aug 14;86(10):6169-6172. doi: 10.1097/MS9.0000000000002457. eCollection 2024 Oct.
Spinal schwannomas are benign tumors usually attached to peripheral nerves, consisting of a clonal population of Schwann cells. Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder that predominantly affects the skin, bone and nervous system. Neurofibromatosis type 1 is a clinically and genetically distinct from neurofibromatosis type 2. This case report highlights the rare association between spinal schwannoma and neurofibromatosis type 1.
The patient with a past medical history of spinal schwannoma, operated 1 year back, presented with back pain, weakness of lower limbs and urge incontinence. On examination, she had cutaneous features suggestive of neurofibromatosis type 1 and there was impairment of all sensory modalities below hip region. MRI revealed spinal schwannoma at D9 level for which laminectomy with removal of schwannoma was performed.
The occurrence and recurrence of spinal schwannoma in neurofibromatosis type 2 is a common finding. But such an association has not been established between spinal schwannoma and neurofibromatosis type 1. In this case, the recurrence of spinal schwannoma has been linked to neurofibromatosis type 1 in the absence of other well-defined etiologies.
The occurrence of spinal schwannoma can be genetic or sporadic. The recurrence is usually associated with familial tumor syndrome. The available literature has not established association between neurofibromatosis type 1 and spinal schwannoma, thus, emphasizing the need of more focused studies.
脊髓神经鞘瘤是通常附着于周围神经的良性肿瘤，由雪旺细胞的克隆群体组成。1型神经纤维瘤病是一种常染色体显性遗传的神经皮肤疾病，主要影响皮肤、骨骼和神经系统。1型神经纤维瘤病在临床和遗传上与2型神经纤维瘤病不同。本病例报告强调了脊髓神经鞘瘤与1型神经纤维瘤病之间的罕见关联。
该患者有脊髓神经鞘瘤病史，1年前接受过手术，现出现背痛、下肢无力和急迫性尿失禁。检查发现她有提示1型神经纤维瘤病的皮肤特征，髋部以下所有感觉模态均有损害。MRI显示D9水平有脊髓神经鞘瘤，为此进行了椎板切除术并切除了神经鞘瘤。
2型神经纤维瘤病中脊髓神经鞘瘤的发生和复发是常见现象。但脊髓神经鞘瘤与1型神经纤维瘤病之间尚未建立这种关联。在本病例中，在没有其他明确病因的情况下，脊髓神经鞘瘤的复发与1型神经纤维瘤病有关。
脊髓神经鞘瘤的发生可以是遗传性的或散发性的。复发通常与家族性肿瘤综合征有关。现有文献尚未证实1型神经纤维瘤病与脊髓神经鞘瘤之间的关联，因此，强调需要进行更有针对性的研究。
