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儿科功能性神经症状障碍的误诊:叙述性综述及相关病例报告。

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.

机构信息

Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza University, Italy.

出版信息

Clin Child Psychol Psychiatry. 2024 Jul;29(3):1026-1042. doi: 10.1177/13591045241240805. Epub 2024 Mar 22.

Abstract

Functional neurological symptom disorders (FNSD) pose a common challenge in clinical practice, particularly in pediatric cases where the clinical phenotypes can be intricate and easily confused with structural disturbances. The frequent coexistence of FNSDs with other medical disorders often results in misdiagnosis. In this review, we highlight the distinctions between FNSD and various psychiatric and neurological conditions. Contrary to the misconception that FNSD is a diagnosis of exclusion, we underscore its nature as a diagnosis of inclusion, contingent upon recognizing specific clinical features. However, our focus is on a critical learning point illustrated by the case of a 14-year-old male initially diagnosed with FNSD, but subsequently found to have a rare primary monogenic movement disorder (paroxysmal kinesigenic dyskinesia, PKD). The crucial takeaway from this case is the importance of avoiding an FNSD diagnosis based solely on psychiatric comorbidity and suppressible symptoms. Instead, clinicians should diligently assess for specific features indicative of FNSD, which were absent in this case. This emphasizes the importance of making a diagnosis of inclusion. Extended follow-up and clinical-oriented genetic testing might help identify comorbidities, prevent misdiagnosis, and guide interventions in complex cases, which cannot be simply classified as "functional" solely because other conditions can be excluded.

摘要

功能性神经症状障碍(FNSD)在临床实践中构成了常见的挑战,尤其是在儿科病例中,其临床表现可能错综复杂,容易与结构紊乱相混淆。FNSD 常与其他医学疾病同时存在,这往往导致误诊。在这篇综述中,我们强调了 FNSD 与各种精神和神经疾病之间的区别。与 FNSD 是排除性诊断的误解相反,我们强调其作为包容性诊断的性质,这取决于识别特定的临床特征。然而,我们的重点是一个关键的学习点,由一个最初被诊断为 FNSD 的 14 岁男性病例说明,后来发现他患有罕见的原发性单基因运动障碍(发作性运动诱发性运动障碍,PKD)。从这个病例中得出的关键结论是,避免仅根据精神共病和可抑制症状做出 FNSD 诊断的重要性。相反,临床医生应该认真评估是否存在特定的 FNSD 特征,而在这个病例中这些特征并不存在。这强调了做出包容性诊断的重要性。扩展的随访和以临床为导向的基因检测可能有助于识别共病,防止误诊,并指导复杂病例的干预措施,不能仅仅因为可以排除其他疾病就将其简单地归类为“功能性”。

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