Objective To report the clinical features of 20 pediatric patients with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Study design Review of clinical data, long-term follow-up, and immunological studies performed in a single center in Spain in the last 4 years. Results The median age of the patients was 13 years (range, 8 months-18 years), 70% were female. In 12 patients (60%) the initial symptoms were neurologic, usually dyskinesias or seizures, and in the other 40% psychiatric. One month into the disease, all patients had involuntary movements and alterations of behavior and speech. All patients received steroids, intravenous immunoglobulin (IVIG) or plasma exchange, and 7 rituximab or cyclophosphamide. With a median follow up of 17.5 months, 85% had substantial recovery, 10% moderate or severe deficits, and 1 died. Three patients had previous episodes compatible with anti-NMDAR encephalitis, 2 of them with additional relapses after the diagnosis of the disorder. Ovarian teratoma was identified in two patients, one at onset of encephalitis and the other one year later. Two novel observations (one patient each) include, the identification of an electroencephalographic pattern (“extreme delta brush”) considered characteristic of this disorder, and the development of anti-NMDAR encephalitis after herpes simplex encephalitis (HSE). Conclusions The initial symptoms of pediatric anti-NMDAR encephalitis vary from those of the adults (more neurologic and less psychiatric in children), the development of a mono-symptomatic illness is extremely rare (except in relapses), and most patients respond to treatment. Our study suggests a link between post-HSE choreoathetosis and anti-NMDAR encephalitis.

In five prospectively diagnosed patients with relapsing post-herpes simplex encephalitis (HSE), NMDAR-antibodies were identified. Antibody synthesis started 1–4 weeks post-HSE, preceding the neurological relapse. Three of five patients improved post-immunotherapy, one spontaneously, and one has started to improve. Two additional patients with NMDAR-antibodies, 9 with unknown neuronal surface-antibodies, and one with NMDAR and unknown antibodies were identified during retrospective assessment of 34 HSE-patients; the frequency of autoantibodies increased over time (serum p=0.004, CSF p=0.04). The three retrospectively identified NMDAR-antibody positive patients also had evidence of relapsing post-HSE. Overall, these findings indicate that HSE triggers NMDAR-antibodies and potentially other brain autoimmunity.

Mutua Madrileña Foundation, Fondation de l'Université de Lausanne et Centre Hospitalier Universitaire Vaudois, Instituto Carlos III, CIBERER, National Institutes of Health, Generalitat de Catalunya, Fundació CELLEX.

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In teenagers and adults, the immune-mediated relapsing syndrome post-HSE is different from that known in young children as choreoathetosis post-HSE and is underrecognized. Prompt diagnosis is important because immunotherapy can be highly effective.

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Background: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. Methods: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters.

An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion.4p-, antiepileptic drugs, hepatoadenomas, seizures, WHS