Anti NMDA receptor encephalitis: a potentially treatable encephalitis

Anti NMDA receptor encephalitis is autoimmune encephalitis where antibodies are directed against NMDA receptor subunit. It represents a new category of immune-mediated disorder that is often paraneoplastic, presenting with neuropsychiatric symptoms, which is treatable and can be diagnosed serologically affecting both children and adults. Patient can have variable clinical presentation ranging from prodromal illness, neuropsychiatric symptoms, seizures, autonomic instability, hyperkinesias, catatonia, hypoventilation and with or without an associated teratoma. A positive serum or CSF sample screening for antibodies to the NMDA receptor subunit is confirmative. Supportive findings include CSF study, EEG and MRI Brain. The first-line therapies includes IVIG, corticosteroids or plasma exchange. Second line immunotherapy is rituximab or cyclophosphamide or both. Given the high mortality rate (up to 25%), the likelihood of presentation across the age range and the potential for treatment, a high index of suspicion is warranted by clinicians. Authors report a case of a 5 year old child with anti NMDA receptor encephalitis who responded well to IVIG therapy.

Vascular endothelial growth factor G1612A (rs10434) gene polymorphism and neuropsychiatric manifestations in systemic lupus erythematosus patients / Polimorfismo genético do fator de crescimento vascular endotelial G1612A (rs10434) e manifestações neuropsiquiátricas em pacientes com lúpus eritematoso sistêmico

Abstract Aim: To investigate the relation between vascular endothelial growth factor (VEGF) gene polymorphism in systemic lupus erythematosus (SLE) patients and lupus related neuropsychiatric manifestations. Patients and methods: Sixty adult SLE patients recruited from the Rheumatology and Neurology departments of Cairo University hospitals were classified into two groups; Group A: 30 patients with neuropsychiatric manifestations (NPSLE) and Group B: 30 patients without. For both groups the SNP G1612A (rs10434) of the VEGF gene was genotyped by real time polymerase chain reaction (RT-PCR). Results: Statistically significant difference was found in genotype and allele frequencies between both groups (AA [70% vs 13.3%, p < 0.001] and GG [10% vs 66.7%, p < 0.001]). Conclusion: Polymorphism in the gene coding for VEGF may be associated with increased incidence of neuropsychiatric lupus in SLE patients.

Resumo Objetivo: Investigar a relação entre o polimorfismo genético do fator de crescimento vascular endotelial (VEGF) em pacientes com lúpus eritematoso sistêmico (LES) e manifestações neuropsiquiátricas relacionadas com o lúpus. Pacientes e métodos: Foram recrutados 60 pacientes adultos com LES nos departamentos de Reumatologia e Neurologia de hospitais universitários do Cairo e classificados em dois grupos; grupo A: 30 pacientes com manifestações neuropsiquiátricas (LESNP) e grupo B: 30 pacientes sem manifestações neuropsiquiátricas. Genotipou-se o SNP G1612A (rs10434) do gene VEGF em ambos os grupos por reação em cadeia da polimerase em tempo real (RT-PCR). Resultados: Foi encontrada diferença estatisticamente significativa nas frequências genotípicas e alélicas entre os dois grupos (AA [70% vs. 13,3%, p < 0,001] e GG [10% vs. 66,7%, p < 0,001]). Conclusão: O polimorfismo no gene que codifica o VEGF pode estar associado ao aumento na incidência de lúpus neuropsiquiátrico em pacientes com LES.

Psychosis, Treatment Emergent Extrapyramidal Events, and Subsequent Onset of Huntington's Disease: A Case Report and Review of the Literature

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease characterized by a triad of progressive motor dysfunction, cognitive decline and psychiatric disturbances. The hallmark of HD is the distinctive choreiform movement disorder that typically has a subtle, insidious onset in the fourth to fifth decade of life and gradually worsens over 10 to 20 years until death. Notably, two-thirds of HD patients present with chorea and one third with mental changes. The prevalence of psychiatric symptoms is significantly higher than in the general population, and is estimated to be around 66–73%. Here, we report a unique case of subsequent onset of HD in a patient previously treated for schizophrenia and complicated by the extrapyramidal side effects to antipsychotics.

Reversible Amygdala and Parahippocampal Lesions of Brain 18Fluorodeoxy Glucose-Positron Emission Tomography in Neuropsychiatric Systemic Lupus Erythematosus

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease that is a significant source of morbidity and mortality when it manifests in the central nervous system. The early detection and treatment of neuropsychiatric SLE (NPSLE) is very important, but a confirmative diagnostic tool has yet to be developed. CASE REPORT: We report here a case of neuropsychiatric manifestations in a patient that were associated with SLE, and evidence of reversal of bilateral amygdala and parahippocampal lesions in the brain revealed by 18fluorodeoxy glucose-positron emission tomography. CONCLUSIONS: We are suggestive of 18fluorodeoxy glucose-positron emission tomography appear to be more sensitive in detecting subtle brain changes in NPSLE.

Análise de prevalência e evolução das manifestações neuropsiquiátricas moderadas e graves em pacientes com lúpus eritematoso sistêmico internados no serviço de reumatologia do Hospital Geral de Fortaleza / Prevalence and follow-up analysis of evolution of severe and moderate neuropsychiatric manifestations in hospitalized systemic lupus erythematosus in the rheumatology service of the Hospital General de Fortaleza

OBJETIVO: Avaliar a prevalência e a resposta terapêutica das manifestações neuropsiquiátricas (MNP) moderadas ou graves em pacientes lúpicos internados no Hospital Geral de Fortaleza (HGF). MÉTODOS: Durante dois anos, 110 pacientes de internações consecutivas com lúpus eritematoso sistêmico, segundo os critérios do Colégio Americano de Reumatologia, foram avaliados para MNP moderadas ou graves. Nestes pacientes estudou-se: causa da internação, presença de auto-anticorpos, liquor, imagens radiológicas, análise retrospectiva dos prontuários e terapêutica utilizada. RESULTADOS: A prevalência de MNP foi de 16,4 por cento (18/110), em 17 mulheres e um homem, com idade média de 29 anos; por ocasião do internamento, 33 por cento (6/18) dos pacientes apresentavam apenas MNP. A ocorrência da primeira MNP foi de 11 por cento (2/18) antes do diagnóstico, 33 por cento (6/18) por ocasião do diagnóstico e 56 por cento (10/18) pós-diagnóstico. A mortalidade foi de 11 por cento (2/18). As principais MNP foram: convulsões e cefaléia (50 por cento), psicose (22 por cento), acidente vascular cerebral (17 por cento) e síncope e depressão maior (11 por cento). Resposta terapêutica: 28 por cento (5/18) pacientes responderam à corticoterapia oral, 17 por cento (3/18) realizaram pulso de metilprednisolona e 56 por cento (10/18) pulso de ciclofosfamida. CONCLUSÃO: A prevalência de MNP na população estudada encontra-se no limite inferior da literatura. Na ausência de estudos clínicos controlados, a abordagem destes pacientes é fundamentada em séries de casos e na experiência profissional do serviço.

OBJECTIVE: Evaluate the prevalence and therapy outcome of moderate and severe neuropsychiatric manifestations (NPM) in patients with systemic lupus erythematosus admitted at the Hospital Geral de Fortaleza. METHODS: During two years, 110 patients with consecutive hospitalizations suffering from systemic lupus erythematosus, according to the American College of Rheumatology criteria, were evaluated for moderate and severe NPM. The following parameters were studied in these patients: cause of admission, presence of auto-antibodies, cerebral spinal fluid, radiological imaging, retrospective study of medical records and treatment. RESULTS: The prevalence of NPM was 16.4 percent (18/110), being seventeen women and one man; the mean age was 29 years; during the hospitalization term, only 33 percent (6/18) of the patients had an NPM. The occurrence of the first NPM was in 11 percent (2/18) of the cases before diagnosis, in 33 percent (6/18) during diagnosis and in 56 percent (10/18) after diagnosis. The mortality rate was 11 percent (2/18). The most common NPM's were: seizures and headache (50 percent), psychosis (22 percent), cerebrovascular disease (17 percent), syncope and major depression (11 percent). Treatment outcome: 28 percent (5/18) of the patients responded to oral corticoids, 17 percent (3/18) had a pulse of methylprednisolone and 56 percent (10/18) were treated with cyclophosphamide. CONCLUSION: The prevalence of NPM in the patients of this study was on the lowest limit reported by the related literature. With no controlled clinical trials, the approach to these patients is based on case reports and the professional experience of the service.