scholarly journals Cryptogenic NORSE

2017 ◽  
Vol 4 (6) ◽  
pp. e396 ◽  
Author(s):  
Takahiro Iizuka ◽  
Naomi Kanazawa ◽  
Juntaro Kaneko ◽  
Naomi Tominaga ◽  
Yutaka Nonoda ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Clinical Features ◽  
Brain Mri ◽  
Ventilatory Support ◽  
Autoimmune Encephalitis ◽  
Refractory Status Epilepticus ◽  
Oligoclonal Bands ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Nmda Receptor Encephalitis

Objective:To report the distinctive clinical features of cryptogenic new-onset refractory status epilepticus (C-NORSE) and the C-NORSE score based on initial clinical assessments.Methods:A retrospective study was conducted for 136 patients with clinically suspected autoimmune encephalitis who underwent testing for autoantibodies to neuronal surface antigens between January 1, 2007, and August 31, 2016. Eleven patients with C-NORSE were identified. Their clinical features were compared with those of 32 patients with anti-NMDA receptor encephalitis (NMDARE).Results:The clinical outcome of 11 patients (median age, 27 years; 7 [64%] women) with C-NORSE was evaluated after a median follow-up of 11 months (range, 6–111 months). Status epilepticus was frequently preceded by fever (10/11 [91%]). Brain MRIs showed symmetric T2/fluid-attenuated inversion recovery hyperintensities (8/11 [73%]) and brain atrophy (9/11 [82%]). Only 2 of the 10 treated patients responded to the first-line immunotherapy, and 4 of the 5 patients treated with IV cyclophosphamide responded to the therapy. The long-term outcome was poor in 8 patients (73%). Compared with 32 patients with NMDARE (median age, 27 years; 24 [75%] women), those with C-NORSE had more frequent prodromal fever, status epilepticus, ventilatory support, and symmetric brain MRI abnormalities, had less frequent involuntary movements, absent psychobehavioral symptoms, CSF oligoclonal bands, or tumor association, and had a worse outcome. The C-NORSE score was higher in patients with C-NORSE than those with NMDARE.Conclusions:Patients with C-NORSE have a spectrum of clinical-immunological features different from those with NMDARE. The C-NORSE score may be useful for discrimination between them. Some patients could respond to immunotherapy.

Determinants of mortality and long-term outcome in children with refractory and super refractory status epilepticus

2022 ◽  
Vol 97 ◽  
pp. 12-16
Author(s):  
Sita Jayalakshmi ◽  
Anuja Patil ◽  
Anusha Challa ◽  
Mihir Parekh ◽  
Harsh Khandelia ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Refractory Status Epilepticus ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Refractory Status

scholarly journals 109 Severe dysautonomia in NMDAR encephalitis

2019 ◽  
Vol 90 (e7) ◽  
pp. A35.2-A35
Author(s):  
Alana Donaldson ◽  
Abhay Venkat ◽  
Shaun Zhai ◽  
Ronak Patel ◽  
Yash Gawarikar
Keyword(s):  
Early Recognition ◽  
Autoimmune Encephalitis ◽  
List Type ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Nmda Receptor Encephalitis ◽  
Nmdar Encephalitis ◽  
Child Bearing ◽  
Physician Awareness ◽  
History Of

IntroductionAnti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is one of the more common forms of autoimmune encephalitis, predominantly affecting children and women of the child-bearing age. It is characterised by memory deficit, behavioural disturbance and seizures. Dysautonomia is recognised as a feature but rarely the first symptom of the condition.1 Here we present a case of severe dysautonomia preceding the diagnosis of NMDAR encephalitis.MethodsWe conducted a retrospective review of the admissions to the neurology ward at the Calvary Hospital, Canberra in 2018 to identify patients diagnosed with NMDAR encephalitis.ResultsOne patient was identified from the registry data. A 37-year-old woman presented with a week-long history of symptomatic orthostatic hypotension. Her supine systolic blood pressure was 110mmHg with a 46mmHg postural drop. Over the first week of hospitalisation, she became increasingly disoriented and erratic in behaviour with fluctuating levels of consciousness requiring intensive unit care. Her CSF demonstrated lymphocytic pleocytosis and NMDAR antibodies were detected in both CSF and serum. She was treated with IVIG, IV steroids and subsequently Rituximab. A pelvic teratoma was found and removed. Her symptomatology including dysautonomia improved substantially by the end of her six-week hospital admission. Her modified Rankin Scale was zero at three months.ConclusionAutonomic dysfunction is not a common feature of autoimmune encephalitides. Our case highlighted the possibility that dysautonomia can be the initiating symptom of this disease entity. Physician awareness is important in the early recognition and treatment of this condition.ReferenceTitulaer MJ, McCracken L, Gabilondo I, Armangue T, Glaser C, Iizuka T, Honig LS, Benseler SM, Kawachi I, Martinez-Hernandez E, et al. Treatment and prognostic factors for long-term outcome in patients with anti-NMDA receptor encephalitis: an observational cohort study. Lancet Neurol 2013;12(2):157–165.

scholarly journals Clinically based score predicting cryptogenic NORSE at the early stage of status epilepticus

2020 ◽  
Vol 7 (5) ◽  
pp. e849
Author(s):  
Atsuko Yanagida ◽  
Naomi Kanazawa ◽  
Juntaro Kaneko ◽  
Atsushi Kaneko ◽  
Ryoko Iwase ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Early Stage ◽  
Brain Mri ◽  
Ventilatory Support ◽  
Antibody Test ◽  
Refractory Status Epilepticus ◽  
Test Results ◽  
Tumor Association ◽  
Unclear Etiology ◽  
Score Range

ObjectiveTo determine whether a clinically based score predicts cryptogenic new-onset refractory status epilepticus (C-NORSE) at the early stage of status epilepticus (SE) with prominent motor symptoms (SE-M) of unclear etiology.MethodsThe score (range 0–6) included 6 clinical features: highly refractoriness to antiseizure drugs, previously healthy individual, presence of prodromal fever, absence of prodromal psychobehavioral or memory alterations, absence of dyskinesias, and symmetric brain MRI abnormalities (the first 2 mandatory). We retrospectively assessed the usefulness of a high scale score (≥5) in predicting C-NORSE in 83 patients with SE-M of unclear etiology, who underwent testing for neuronal surface antibodies (NS-Abs) between January 2007, and December 2019.ResultsThirty-one (37.3%) patients had a high score. Patients with a high score had more frequent prodromal fever (28/31 vs 24/52), mechanical ventilatory support (31/31 vs 36/52), and symmetric MRI abnormalities (26/31 vs 12/52), had less frequent involuntary movements (2/31 vs 30/52), and had absent prodromal psychobehavioral alterations (0/31 vs 27/52), CSF oligoclonal band detection (0/27 vs 11/38), tumor association (0/31 vs 13/52), or NS-Abs (0/31 vs 29/52) than those with a low score (<5). Thirty-three patients (median age, 27 years; 18 [54.5%] female) were finally regarded as C-NORSE. The sensitivity and specificity of a high score for predicting C-NORSE were 93.9% (95% CI 0.87–0.94) and 100% (95% CI 0.95–1.00), respectively.ConclusionsPatients with a high score in the indicated scale are more likely to have C-NORSE, making it a useful diagnostic tool at the early stage of SE-M before antibody test results become available.

Clinical features and long-term outcome of ipsilateral delayed endolymphatic hydrops

2019 ◽  
Vol 69 (3) ◽  
Author(s):  
Andrea Albera ◽  
Claudia Cassandro ◽  
Carmine F. Gervasio ◽  
Sergio Lucisano ◽  
Marco Boldreghini ◽  
...  
Keyword(s):  
Clinical Features ◽  
Endolymphatic Hydrops ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Delayed Endolymphatic Hydrops

scholarly journals Complete cognitive recovery in a severe case of anti-N-methyl-d-aspartate receptor encephalitis treated with electroconvulsive therapy

2020 ◽  
Vol 13 (2) ◽  
pp. e233772
Author(s):  
Cæcilie Leding ◽  
Lisbet Marstrand ◽  
Anders Jorgensen
Keyword(s):  
Nmda Receptor ◽  
Electroconvulsive Therapy ◽  
Neuropsychiatric Symptoms ◽  
Behavioural Change ◽  
Severe Case ◽  
Cognitive Outcome ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Cognitive Domains ◽  
Nmda Receptor Encephalitis

Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis usually presents with prominent neuropsychiatric symptoms and many patients experience cognitive sequelae. Electroconvulsive therapy (ECT) has been suggested as a part of the treatment, particularly for catatonia, but concerns that ECT may worsen the cognitive function and long-term outcome may limit its use. We present a case of anti-NMDA receptor encephalitis with severe neuropsychiatric manifestations including refractory catatonia and behavioural change. A pre-ECT neuropsychological assessment revealed dysfunction in multiple cognitive domains in spite of intensive pharmacological treatment. Twenty days after the ninth and last ECT treatment, the patient underwent the same neuropsychological tests, which showed normalised test results within all cognitive domains and no need of rehabilitation. The case demonstrates that the use of ECT in anti-NMDA receptor encephalitis with severe pretreatment cognitive dysfunction can be associated with a highly favourable cognitive outcome.

Frequency and temporal sequence of clinical features in adults with anti-NMDA receptor encephalitis presenting with psychiatric symptoms

2018 ◽  
Vol 49 (16) ◽  
pp. 2709-2716 ◽  
Author(s):  
Ronald J. Gurrera
Keyword(s):  
Nmda Receptor ◽  
Clinical Features ◽  
Psychiatric Symptoms ◽  
Autoimmune Encephalitis ◽  
Signs And Symptoms ◽  
Nmda Receptor Encephalitis ◽  
Nmdar Encephalitis ◽  
Unexplained Fever ◽  
Study Inclusion

AbstractBackgroundAnti-NMDA receptor (NMDAr) encephalitis is the most common autoimmune encephalitis in adults. It mimics psychiatric disorders so often that most patients are initially referred to a psychiatrist, and many are misdiagnosed. Without prompt and effective treatment, patients are likely to suffer a protracted course with significant residual disability, or death. This study focuses on the frequency and chronology of salient clinical features in adults with anti-NMDAr encephalitis who are likely to be first evaluated by a psychiatrist because their presentation suggests a primary psychiatric disorder.MethodsA systematic search of PubMed and EMBASE databases identified published reports of anti-NMDAr encephalitis associated with prominent behavioral or psychiatric symptoms. After eliminating redundancies, the frequencies and relative timing of clinical features were tabulated. Signs and symptoms were assigned temporal ranks based on the timing of their first appearance relative to the first appearance of other signs and symptoms in each patient; median ranks were used to compare temporal sequencing of both individual features and major symptom domains.ResultsTwo hundred thirty unique cases (185 female) met study inclusion criteria. The most common features were seizures (60.4%), disorientation/confusion (42.6%), orofacial dyskinesias (39.1%), and mutism/staring (37.4%). Seizures, fever, and cognitive dysfunction were often the earliest features to emerge, but psychiatric features predominated and sequencing varied greatly between individuals.ConclusionsClinicians should consider anti-NMDAr encephalitis when new psychiatric symptoms are accompanied by a recent viral prodrome, seizures or unexplained fever, or when the quality of the psychiatric symptoms is unusual (e.g. non-verbal auditory hallucinations).

Orofacial granulomatosis: Clinical features and long-term outcome of therapy

2010 ◽  
Vol 62 (4) ◽  
pp. 611-620 ◽  
Author(s):  
Khalid A. Al Johani ◽  
David R. Moles ◽  
Tim A. Hodgson ◽  
Stephen R. Porter ◽  
Stefano Fedele
Keyword(s):  
Clinical Features ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Orofacial Granulomatosis

scholarly journals COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation

2020 ◽  
Vol 6 (4) ◽  
pp. e464 ◽  
Author(s):  
Carola Hedberg-Oldfors ◽  
Niklas Darin ◽  
Christer Thomsen ◽  
Christopher Lindberg ◽  
Anders Oldfors
Keyword(s):  
Genetic Analysis ◽  
Nonsense Mutation ◽  
Clinical Investigation ◽  
Brain Mri ◽  
Homozygous Mutation ◽  
Term Outcome ◽  
Complex Iv ◽  
Long Term Outcome ◽  
Long Term Follow Up

ObjectiveTo describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8.MethodsThe patient was clinically investigated at 3, 5, 9, and 25 years of age. Brain MRI, repeat muscle biopsies with biochemical, morphologic, and protein expression analyses were performed, and whole-genome sequencing was used for genetic analysis.ResultsClinical investigation revealed dysarthria, dysphagia, and muscle weakness following pneumonia at age 3 years. There was clinical regression leading to severe loss of ambulation, speech, swallowing, hearing, and vision. The clinical course stabilized after 2.5 years and improved over time. The MRI pattern in the patient demonstrated cavitating leukoencephalopathy, and muscle mitochondrial investigations showed COX deficiency with loss of complex IV subunits and ultrastructural abnormalities. Genetic analysis revealed a novel homozygous mutation in the APOPT1/COA8 gene, c.310T>C; p.(Gln104*).ConclusionsWe describe a novel nonsense mutation in APOPT1/COA8 and provide additional experimental evidence for a COX assembly defect in human muscle causing the complex IV deficiency. The long-term outcome of the disease seems in general to be favorable, and the characteristic MRI pattern with cavitating leukoencephalopathy in combination with COX deficiency should prompt for testing of the APOPT1/COA8 gene.

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