Jul 2026· Case Reports in Neurology· Vol 18, pp. 470 - 479· 0 citations· 24 references
Medicine
TL;DR
The combination of tacrolimus and a ketogenic diet was associated with substantial seizure reduction and stabilization of cognitive impairment in this patient with adult-onset RE, suggesting that ketogenic dietary therapy may represent a promising adjunctive therapeutic strategy alongside immunomodulatory treatment in this rare and challenging condition.
Abstract
Abstract Introduction Rasmussen’s encephalitis (RE) is a rare immune-mediated neurological disorder characterized by refractory focal epilepsy, progressive neurological deficits, and unilateral cerebral atrophy. Although typically a pediatric disease, adult-onset cases account for fewer than 10% of reported diagnoses and remain poorly characterized. Early recognition and prompt immunotherapy are critical to limit irreversible neurological damage. Case Presentation We report the case of a 46-year-old woman with adult-onset RE presenting with focal non-motor seizures and progressive cognitive impairment. Neuroimaging demonstrated progressive left hemispheric atrophy with hippocampal and mammillary involvement, while continuous electroencephalographic monitoring revealed persistent left frontotemporal epileptogenic activity. Cerebrospinal fluid analysis showed intrathecal antibody synthesis. Immunotherapy with oral tacrolimus was initiated, resulting in stabilization of cognitive decline and reduction of seizure frequency from approximately 30–40 to 15–20 episodes per day. Due to persistent seizures and intolerance to multiple antiseizure medications (ASMs), a classical ketogenic diet was introduced as adjunctive therapy, leading to an additional reduction in seizure frequency of approximately 50% 6 months after initiation, and subjective stabilization of cognitive symptoms despite minimal change in screening scores. Seizure control and clinical state have remained stable up to current follow-up, almost 5 years after combined treatment initiation. Conclusion This case highlights the potential therapeutic benefit of combining immunomodulatory therapy with ketogenic dietary intervention in adult-onset RE. Beyond its established role in refractory epilepsy, ketogenic therapy may exert anti-inflammatory and neurometabolic effects through modulation of microglial activation, cytokine signaling, and cellular metabolism pathways implicated in RE pathogenesis. The combination of tacrolimus and a ketogenic diet was associated with substantial seizure reduction and stabilization of cognitive impairment in this patient with adult-onset RE. These findings suggest that ketogenic dietary therapy may represent a promising adjunctive therapeutic strategy alongside immunomodulatory treatment in this rare and challenging condition. Further studies are needed to clarify its role in disease progression and seizure control.
Lennox–Gastaut Syndrome (LGS) is a severe childhood-onset epileptic encephalopathy characterised by multiple daily seizures of varying semiology, intellectual disability, and a characteristic electroencephalographic pattern. Neuropsychiatric comorbidities - including attention-deficit/hyperactivity disorder (ADHD), autistic spectrum manifestations, and learning difficulties - are well documented in this population. Management is challenging owing to poor seizure response to conventional antiepileptic medications and the complexity introduced by co-occurring psychiatric disorders.
We report the case of a patient with LGS severely resistant to antiepileptic therapy and complicated by worsening ADHD symptoms. Following years of trialling multiple antiseizure medications with limited benefit, memantine was initiated alongside other medications and was associated with meaningful improvement in seizure frequency, cognition, and behavioural manifestations. ADHD medications were subsequently reintroduced, were well tolerated, and further improved the patient’s attention and behaviour.
This case highlights a novel application of memantine - an agent most commonly used in the management of Alzheimer’s disease - and suggests its potential utility as adjunctive therapy for improving both seizure control and neuropsychiatric symptoms in patients with LGS. Further research is warranted to evaluate this therapeutic approach systematically.
Akuti Khanna, Özge Özkan, Aditi Pajiyar et al.· Journal of Global Health Neu...· 0 citations
A boy with normal early development who developed progressive aphasia and non-motor seizures around age three is described, with electroencephalographic findings consistent with spike-wave activation during slow sleep, while neuroimaging and metabolic evaluations were normal.
Mahmoud Mohammadi, Reza Shervin Badv, Zahra Rezaei et al.· Iranian journal of child neu...· 0 citations
Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is a potentially severe autoimmune encephalitis that may rapidly progress to critical illness. We report a young patient with severe anti-NMDAR encephalitis complicated by seizures, psychiatric symptoms, behavioral disturbance, dyskinesia, and dysautonomia. Despite first-line immunotherapy with intravenous methylprednisolone and intravenous immunoglobulin, the patient remained severely disabled. Peripheral blood analysis showed elevated C5a and soluble C5b-9 levels, suggesting activation of the terminal complement pathway. After treatment with eculizumab, a monoclonal antibody targeting complement component C5, seizure ceased and psychiatric symptoms improved rapidly. These findings suggest that complement inhibition may facilitate rapid neurological recovery and may represent a potential therapeutic strategy for selected patients with severe anti-NMDAR encephalitis.
Yang Liu, Yujing Yuan, Yingjie Zhang et al.· Journal of Neuroimmunology· 0 citations
Background Anti-γ-aminobutyric acid A receptor (GABAA receptor) encephalitis is a rare but severe subtype of autoimmune encephalitis (AE), typically characterized by refractory seizures and rapidly progressive neurological dysfunction. Although structural abnormalities on magnetic resonance imaging (MRI) are frequently observed, the temporal relationships among clinical manifestations, electrophysiological changes, immune activity, and neuroimaging findings remain insufficiently characterized. Case presentation We report a 61-year-old man with anti-GABAA receptor encephalitis who underwent longitudinal multimodal evaluation. In the early stage, the patient presented with nonspecific vestibular symptoms accompanied by subtle cortical abnormalities on MRI. The disease rapidly progressed to status epilepticus and cognitive impairment. Electroencephalography (EEG) revealed widespread epileptiform discharges, while cerebrospinal fluid (CSF) analysis demonstrated inflammatory changes, and both serum and CSF were positive for anti-GABAA receptor antibodies. Following timely immunotherapy, the patient exhibited rapid clinical improvement, marked attenuation of epileptiform activity, and subsequent antibody negativization. Notably, structural MRI abnormalities persisted and resolved more slowly than clinical and electrophysiological recovery. Translocator protein positron emission tomography (TSPO-PET) using the 18F-DPA714 demonstrated increased tracer uptake in the bilateral temporo-parieto-occipital cortices, indicating persistent neuroinflammation despite clinical improvement. Conclusions This case provides longitudinal multimodal observations supporting the concept that anti-GABAA receptor encephalitis may represent a dynamic and potentially reversible disorder of network hyperexcitability rather than a purely structural inflammatory injury. The temporal dissociation between functional recovery and delayed structural resolution highlights the critical value of multimodal monitoring, particularly EEG and immunological biomarkers, in assessing disease activity and guiding immunotherapy.
Yi Huang, Jiayue Li, Qi Gao et al.· Frontiers in Immunology· 0 citations
Anti-IgLON5 disease is a rare neurological disorder with overlapping autoimmune and neurodegenerative mechanisms and a strong HLA haplotype association. It typically presents with sleep disturbances, though bulbar and neuropsychiatric symptoms contribute to clinical heterogeneity. The definitive diagnostic hallmark is the detection of anti-IgLON5 IgG antibodies. A 74-year-old female was initially admitted with pneumonia and persistent encephalopathy. Continuous video EEG monitoring captured multiple brief episodes of facial contraction with dystonic posturing of the left upper extremity, consistent with facio-brachial dystonic seizures (FBDS), arising from the right temporal region and evolution over the right temporo-parietal-occipital region. Magnetic resonance imaging of the brain showed T2-FLAIR and DWI hyperintensities in the right-temporoparietal and mesial temporal regions. The patient was initially treated with escalating anti-seizure therapy. Given concern for autoimmune-mediated encephalopathy and new-onset refractory status epilepticus (NORSE), along with an APE2 score of 10 and RITE2 score >7, high-dose corticosteroid therapy was initiated. Following the initiation of steroids, there was a notable rapid improvement in both clinical and electrographic parameters. Serum testing later returned positive for anti-IgLON5 antibodies. Epileptic seizures occur only in a minority of anti-IgLON5 cases, with focal or generalized events reported in approximately 5% of patients. Overall, the semiology observed is diverse, ranging from brief events of impaired consciousness, automotor seizures, to bilateral tonic-clonic seizures. FBDS, typically associated with LGI1 autoimmunity, has not previously been reported in this disorder. Neuroimaging is often nonspecific but may show brainstem or hippocampal involvement. Early immunotherapy, particularly intravenous immunoglobulin, is associated with improved outcomes, especially when initiated within six weeks of symptom onset. This case expands the known clinical spectrum of anti-IgLON5 disease by highlighting an atypical presentation characterized by facio-brachial dystonic seizures and response to immunotherapy.
A. Lerint, Sakina Matcheswalla, M. Hafeez· Journal of Central Nervous S...· 0 citations
A 44‐year‐old woman was referred to our epilepsy center for evaluation of refractory seizures persisting for 36 years. Diagnostic workup revealed anti‐glutamic acid decarboxylase 65 limbic encephalitis (anti‐GAD65 LE), supported by markedly elevated serum anti‐GAD65 antibody titers and a compatible clinical presentation. Following initiation of a 6‐month course of intravenous immunoglobulin (IVIG), seizure frequency decreased substantially, from 12 to 16 focal seizures per day to approximately one brief focal seizure per month. This was accompanied by improvements in cognition, psychiatric symptoms, and overall clinical function. This case highlights the potential for meaningful therapeutic response to immunotherapy despite prolonged diagnostic delay.
Ghadah Bughaith, Ghadeer Mahdi, Mohammad Ashkanani· Case Reports in Neurological...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
