ABSTRACT
The objective of this study is to describe the treatment and outcome of children and adolescents with N-methyl-D-aspartate receptor (NMDA-R) encephalitis. A retrospective study of children and adolescents with NMDA-R encephalitis was performed by the French Paraneoplastic Neurological Syndrome Reference Center between January 1, 2007 and December 31, 2012. The modified Rankin scale (mRS) was used to assess outcome. Thirty-six children and adolescents with NMDA-R encephalitis were studied. All of the patients received first-line immunotherapy (corticosteroids, intravenous immunoglobulins or plasma exchange), and 81% received second-line immunotherapy (rituximab or cyclophosphamide). Median time between first-line and second-line treatment was 26 days. During the first 24 months, 30 of 36 patients (83%) achieved a good outcome (mRS ≤ 2) and 20 of 36 patients (56%) achieved complete recovery (mRS = 0). Median time to good outcome and to complete recovery was 6 and 24 months, respectively. Three patients (8%) relapsed, one patient died. In multivariate analysis, age >12 years was a predictor of good outcome and initial mRS ≤ 3 was a predictor of complete recovery. Despite a higher rate of patients who received second-line immunotherapy, the outcome of the patients in the present series was very similar to the outcome reported in previous series. The present study highlights the need for clinical trials to determine the optimal treatment of NMDA-R encephalitis.
Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis/therapy , Immunotherapy/methods , Outcome Assessment, Health Care , Adolescent , Age Factors , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/physiopathology , Child , Child, Preschool , Female , Humans , Infant , Male , Plasma Exchange/methods , Prognosis , Retrospective Studies , Severity of Illness IndexABSTRACT
OBJECTIVE: The aim of this study was to describe the clinical presentation of children and adolescents with anti-Hu antibodies (Hu-Abs). METHODS: This was a retrospective study of children and adolescents with Hu-Abs collected by the French Paraneoplastic Neurological Syndrome (PNS) Reference Center between January 1, 2000 and December 31, 2011. RESULTS: The center identified 251 patients with Hu-Abs. Only 8 patients were younger than 18 years. All of the 243 adult patients had PNS. In contrast, of the 8 children, only 2 (25%, Fisher exact test p = 0.0003) had neuroblastoma and opsoclonus-myoclonus. The other 6 children (5 female and 1 male) presented with limbic encephalitis (progressive personality changes, memory loss, and seizure) and were free of cancer (mean follow-up time: 50 months; range: 34-72 months). Brain MRI scans were abnormal in 4 of the 6 patients, with left, right, or bitemporal T2/fluid-attenuated inversion recovery hyperintensity. Protein levels and cell counts in the CSF were normal in all patients, but numerous oligoclonal bands were observed in 4 patients. All 6 patients received antiepileptic drugs and immunotherapy, but management of epilepsy was difficult in all of them. Five of the children developed cognitive impairments. CONCLUSION: In children, as in adults, Hu-Abs can be a marker of PNS. However, in contrast to adults, Hu-Abs in children are also associated with an aggressive form of autoimmune nonparaneoplastic limbic encephalitis. Future studies should be conducted to determine the incidence of this syndrome and whether earlier diagnosis and T-cell-directed immunotherapies may improve its prognosis.
Subject(s)
Antibodies, Antinuclear/biosynthesis , Autoimmune Diseases/diagnosis , Autoimmune Diseases/immunology , ELAV Proteins/immunology , Limbic Encephalitis/diagnosis , Limbic Encephalitis/immunology , Adolescent , Adult , Antibodies, Antinuclear/blood , Autoimmune Diseases/epidemiology , Biomarkers/blood , Child , Female , Follow-Up Studies , Humans , Limbic Encephalitis/epidemiology , Male , Neoplasms/diagnosis , Neoplasms/epidemiology , Neoplasms/immunology , Retrospective StudiesABSTRACT
INTRODUCTION: Toluene toxicity primarily affects central nervous system white matter, causing a characteristic brain MRI pattern. CASE REPORT: A toluene addicted man, after an abstinence period and a treatment with neuroleptics, presented with severe worsening of preexisting generalized tremor, opsoclonus, dysarthria, gait inability, jerky tendon reflexes and behaviour disorders. Magnetic resonance imaging showed mild leukoencephalopathy and hypointensities in deep gray matter nuclei. The DaT-scan revealed a decrease in presynaptic dopamine reuptake. CONCLUSION: Clinical and neuroradiological findings and the possible sensitivity to neuroleptics indicate dopaminergic impairment. Our case suggests that chronic toluene abuse causes presynaptic dopaminergic depletion.
