Alshamrani Foziah, Alyami Rawan, Alghanimi Ibrahim, Alajaji Reef, Alkhaldi Modhi, Alamri Abdulla
Department of Neurology, King Fahad University Hospital, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Front Neurol. 2021 Nov 19;12:730129. doi: 10.3389/fneur.2021.730129. eCollection 2021.
Combined central and peripheral demyelination (CCPD) is not encountered frequently in the clinical practice, and it requires a high level of suspicion for diagnosis. We describe a case of a young man who was diagnosed with radiologically isolated syndrome (RIS) after presenting initially with symptoms suggestive of central nervous system (CNS) insult in the form of double vision, slurred speech, left-sided numbness, and unsteadiness. However, on the next day of admission, his neurological examination was remarkable for ataxia, areflexia, and ophthalmoplegia, the typical triad of Miller Fisher syndrome (MFS). After confirming both diagnoses, the final diagnosis of CCPD was made. The challenges one may face to diagnose and treat CCPD urge sharing of similar cases to open the door for further extensive and thorough investigations and to encourage further studies and analysis of available data to come up with consolidated management guidelines for rare disorders.
中枢与周围联合脱髓鞘病变(CCPD)在临床实践中并不常见,其诊断需要高度怀疑。我们描述了一例年轻男性病例,该患者最初出现复视、言语不清、左侧麻木和步态不稳等提示中枢神经系统(CNS)损伤的症状,随后被诊断为放射学孤立综合征(RIS)。然而,入院次日,他的神经系统检查显示出共济失调、腱反射消失和眼肌麻痹,这是米勒·费希尔综合征(MFS)的典型三联征。在确诊这两种疾病后,最终诊断为CCPD。诊断和治疗CCPD可能面临的挑战促使分享类似病例,以便为进一步广泛而深入的研究打开大门,并鼓励对现有数据进行进一步研究和分析,从而制定罕见疾病的综合管理指南。