Topiwala Karan, Rath Subhendu, Daniel Annie, Prasad Avinash
Neurology, Hartford Hospital, Hartford, USA.
Neurology, University of Michigan School of Medicine, Ann Arbor, USA.
Cureus. 2020 Aug 27;12(8):e10069. doi: 10.7759/cureus.10069.
Neurosarcoidosis (NS) is a mimicker of many infectious, neoplastic, and inflammatory diseases. It most commonly involves the cranial nerves followed by meninges, ventricles, hypothalamic-pituitary axis, spinal cord, and brainstem/cerebellum. While NS myelopathy has been increasingly recognized, pathophysiological/prognostic and management principles in NS-mediated cauda equina (CE) and conus medullaris (CM) syndromes, which constitute a small and rare minority of this subset, remain elusive. We present the case of a 49 -year-old Hispanic man who developed a peripheral facial palsy and primary hypogonadism within a span of 12 months and eventually got diagnosed with NS after he presented with CE syndrome. We also performed an extensive literature review, with a discussion on the underlying pathophysiology and current management recommendations for NS-mediated CE/CM syndrome. CE/CM syndromes in a middle-aged man should prompt the consideration of NS as a possible differential diagnosis. While steroid responsive, the majority of NS-CE/CM patients are left with residual neurodeficits with quick relapses when steroids are tapered, making the case for early institution of immunosuppressive therapies.
神经结节病(NS)可模仿多种感染性、肿瘤性和炎性疾病。它最常累及颅神经,其次是脑膜、脑室、下丘脑 - 垂体轴、脊髓以及脑干/小脑。虽然NS脊髓病已越来越受到认可,但在NS介导的马尾(CE)和圆锥马尾(CM)综合征中,其病理生理/预后及管理原则仍不明确,而这两种综合征在该疾病亚组中占比小且罕见。我们报告了一例49岁的西班牙裔男性病例,该患者在12个月内出现周围性面瘫和原发性性腺功能减退,最终在出现CE综合征后被诊断为NS。我们还进行了广泛的文献综述,并讨论了NS介导的CE/CM综合征的潜在病理生理学和当前管理建议。中年男性出现CE/CM综合征时应考虑NS作为可能的鉴别诊断。虽然大多数NS - CE/CM患者对类固醇有反应,但当类固醇减量时,大多数患者会留下残余神经功能缺损且复发迅速,这使得早期应用免疫抑制疗法成为必要。