神经纤维瘤病 1 型患者脊髓分裂瘤复发:病例报告。

IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL
Annals of Medicine and Surgery Pub Date : 2024-08-14 eCollection Date: 2024-10-01 DOI:10.1097/MS9.0000000000002457
Hardik Bhandari, Alok Dahal, Grishma Khadka
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引用次数: 0

摘要

导言和重要性:脊神经分裂瘤是一种良性肿瘤,通常附着在周围神经上,由许旺细胞克隆群组成。神经纤维瘤病 1 型是一种常染色体显性神经皮肤病,主要影响皮肤、骨骼和神经系统。神经纤维瘤病 1 型在临床和基因上与神经纤维瘤病 2 型截然不同。本病例报告强调了脊神经分裂瘤与神经纤维瘤病 1 型之间的罕见关联:患者既往有脊神经分裂瘤病史,曾在 1 年前接受过脊神经分裂瘤手术,因背部疼痛、下肢无力和急迫性尿失禁而就诊。经检查,她的皮肤特征提示为 1 型神经纤维瘤病,臀部以下所有感觉器官均受损。核磁共振成像显示,D9水平有脊柱裂孔瘤,因此进行了椎板切除术,并切除了裂孔瘤:临床讨论:神经纤维瘤病 2 型患者脊柱分裂瘤的发生和复发是一种常见现象。临床讨论:脊柱分裂瘤在神经纤维瘤病 2 型中的发生和复发是一种常见病,但在脊柱分裂瘤与神经纤维瘤病 1 型之间尚未发现这种关联。在本病例中,脊神经分裂瘤的复发与神经纤维瘤病 1 型有关,而没有其他明确的病因:结论:脊柱分裂瘤的发生可能是遗传性的,也可能是散发性的。结论:脊柱分裂瘤的发生可能是遗传性的,也可能是散发性的,复发通常与家族肿瘤综合征有关。现有文献尚未证实神经纤维瘤病 1 型与脊神经分裂瘤之间存在关联,因此强调需要进行更有针对性的研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Recurrence of spinal schwannomas in a patient with neurofibromatosis type 1: a case report.

Introduction and importance: 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.

Case presentation: 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.

Clinical discussion: 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.

Conclusion: 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.

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Annals of Medicine and Surgery
Annals of Medicine and Surgery MEDICINE, GENERAL & INTERNAL-
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