Cousins Oliver, Girelli Elena, Harikrishnan Sreedharan
Department of Neurology, East Kent Hospitals University NHS Foundation Trust, Canterbury, UK.
Faculty of Life Sciences and Medicine, King's College London School of Medical Education, London, UK.
BMJ Case Rep. 2019 Jan 14;12(1):bcr-2018-227041. doi: 10.1136/bcr-2018-227041.
Neuromyelitis optica spectrum disorder (NMOSD) is a rare neurological condition infrequently associated with dysphagia on initial presentation. We describe the case of a 54-year-old woman who presented multiple times to healthcare professionals with severe vomiting, followed by sudden profound dysphagia. Her diagnosis was elusive, initially attributed to achalasia cardia and subsequently to stroke. A dorsal medullary lesion was revealed on MRI of the brain, which involved and extended beyond the area postrema. The patient required percutaneous gastrostomy, and repeated aspiration pneumonia complicated her clinical course. After aquaporin-4 antibodies returned positive, a diagnosis of NMOSD was made and she improved with immunosuppression. We discuss the process of lesion localisation and aetiology determination, as well as the difficulties that this case presented. Our hope is that this report will facilitate earlier diagnosis in similar cases in the future.
视神经脊髓炎谱系障碍(NMOSD)是一种罕见的神经系统疾病,初发时很少伴有吞咽困难。我们报告一例54岁女性病例,该患者多次因严重呕吐就医,随后突然出现严重吞咽困难。其诊断难以明确,最初归因于贲门失弛缓症,随后又归因于中风。脑部MRI显示延髓背侧病变,累及并超出最后区。患者需要进行经皮胃造瘘术,反复发生的吸入性肺炎使她的临床病程复杂化。水通道蛋白4抗体呈阳性后,确诊为NMOSD,经免疫抑制治疗后病情好转。我们讨论了病变定位和病因确定的过程,以及该病例所呈现的困难。我们希望本报告能为未来类似病例的早期诊断提供帮助。