Uncommon Pediatric Immune-Mediated Epilepsy: Disease Course, Diagnosis, and Outcome - A Series of Three Cases.

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY Annals of Indian Academy of Neurology Pub Date : 2024-09-01 Epub Date: 2024-10-08 DOI:10.4103/aian.aian_149_24

Aakash Mahesan, Aradhana Rohil, Prashant Jauhari, Madhavi Tripathi, Biswaroop Chakrabarty, Atin Kumar, Sheffali Gulati

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Abstract

Immune-mediated epilepsy (IME) constitutes a substantial proportion of drug-refractory epilepsies. Rapid diagnosis and prompt immunosuppression are required along with antiseizure medications (ASMs). Here we report three unrelated children who presented with fever, encephalopathy, and refractory epilepsy and subsequently tested positive for rare intraneuronal and surface receptor antibodies, namely, contactin-associated protein like 2 (CASPR2), glutamic acid decarboxylase (GAD65), and paraneoplastic antigen Ma2 (PNMA2). In all of them, brain magnetic resonance imaging (MRI) was noncontributory. Electroencephalography showed nonspecific interictal epileptic discharges. F-18 fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scan revealed abnormality in metabolic pattern with hypermetabolism in basal ganglia, thalami, frontotemporal cortices, and cerebellar hemispheres, consistent with autoimmune encephalitis. Immunosuppression was initiated along with ASMs. Complete seizure freedom was achieved in GAD65 antibody IME and >50% seizure reduction in CASPR2 and PNMA2 antibody IME. A variable degree of behavioral problems persisted in all. Early immunosuppression is warranted in IME, but does not universally guarantee a complete response.

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不常见的小儿免疫性癫痫：病程、诊断和结果--三例系列病例。

摘要：免疫介导的癫痫（IME）在药物难治性癫痫中占很大比例。在使用抗癫痫药物（ASMs）的同时，还需要快速诊断和及时的免疫抑制。在此，我们报告了三名无亲属关系的患儿，他们出现发热、脑病和难治性癫痫，随后检测出罕见的神经元内抗体和表面受体抗体阳性，这些抗体是接触素相关蛋白2（CASPR2）、谷氨酸脱羧酶（GAD65）和副肿瘤抗原Ma2（PNMA2）。在所有这些患者中，脑磁共振成像（MRI）均无影响。脑电图显示非特异性发作间期癫痫放电。F-18氟脱氧葡萄糖（FDG）正电子发射断层扫描（PET）脑扫描显示代谢模式异常，基底节、丘脑、额颞叶皮质和小脑半球代谢亢进，与自身免疫性脑炎一致。在使用 ASMs 的同时，还启动了免疫抑制。GAD65抗体IME患者的癫痫发作完全消失，CASPR2和PNMA2抗体IME患者的癫痫发作减少了50%以上。所有患者都持续存在不同程度的行为问题。对于 IME，早期免疫抑制是有必要的，但并不能普遍保证完全应答。

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来源期刊

Annals of Indian Academy of Neurology Nervous System Diseases-

CiteScore

2.20

自引率

11.80%

发文量

293

审稿时长

29 weeks

期刊介绍： The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.