Paediatric multiple sclerosis: a case report of missed and dismissed diagnosis

nebal wael saadi, Q. Fahad
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Abstract

Multiple Sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system (CNS). Up to 10 % of MS patients have onset in paediatric age group. Although the clinical profile of MS appears similar to that seen in adults, several features may differ and specific issues arise in children. Here, we reported a 12-year old girl who presented with 3-year history of episodes of seizures and facial nerve palsy and finally fatigue and cognitive impairment were noted and interfered with her academic performance. Because of the presumed atypical clinical presentations, the diagnosis was missed then dismissed despite neuroimaging features and CSF immunological findings that were highly suggestive of MS. Later, evolution of the disease by neuroimaging helped confirming the diagnosis and directed toward the delayed therapy.
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儿童多发性硬化症漏诊和漏诊1例报告
多发性硬化症(MS)是一种中枢神经系统(CNS)的慢性炎症性自身免疫性疾病。高达10%的多发性硬化症患者在儿科年龄组发病。尽管多发性硬化症的临床表现与成人相似,但有几个特征可能不同,儿童会出现特定问题。在这里,我们报道了一名12岁的女孩,她有3年的癫痫发作和面神经麻痹史,最后发现疲劳和认知障碍,并干扰了她的学习成绩。由于假定的非典型临床表现,尽管神经影像学特征和脑脊液免疫学结果高度提示MS,但诊断被遗漏,随后被驳回。后来,神经影像学对疾病的演变有助于确认诊断,并有助于延迟治疗。
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发文量
35
审稿时长
24 weeks
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