We describe a cohort of patients with PLA2G6-associated neurodegeneration (PLAN). Although patients with PLAN have previously been diagnosed with infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome, they display a characteristic clinical and radiologic phenotype. PLA2G6 mutational analysis will negate the need for more invasive diagnostic procedures such as tissue biopsy.

This surveillance study described a cohort of adults and children with neurological manifestations of influenza. The majority were due to H1N1. More children than adults were identified; many children had specific encephalopathy syndromes with poor outcomes. None had been vaccinated, although 8 (32%) had indications for this. A modified classification system is proposed based on our data and the increasing spectrum of recognized acute encephalopathy syndromes.

ABBREVIATIONS BHCBenign METHOD Clinical data from individuals with benign hereditary chorea identified through paediatric neurology services were collected in a standardized format. The NKX2.1 gene was analysed by Sanger sequencing, multiplex ligation-dependent probe amplification, and microarray analysis.RESULTS Six of our cohort were female and four male, median age at assessment was 8 years 6 months (range 1y 6mo-18y). We identified 10 probands with NKX2

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SUMMARYPurpose: To evaluate adherence to prescribed antiepileptic drugs (AEDs) in children with epilepsy using a combination of adherence-assessment methods. Methods: A total of 100 children with epilepsy ( 17 years old) were recruited. Medication adherence was determined via parental and child self-reporting ( ! 9 years old), medication refill data from general practitioner (GP) prescribing records, and via AED concentrations in dried blood spot (DBS) samples obtained from children at the clinic and via self-or parental-led sampling in children's own homes. The latter were assessed using population pharmacokinetic modeling. Patients were deemed nonadherent if any of these measures were indicative of nonadherence with the prescribed treatment. In addition, beliefs about medicines, parental confidence in seizure management, and the presence of depressed mood in parents were evaluated to examine their association with nonadherence in the participating children. Key Findings: The overall rate of nonadherence in children with epilepsy was 33%. Logistic regression analysis indicated that children with generalized epilepsy (vs. focal epilepsy) were more likely (odds ratio [OR] 4.7, 95% confidence interval [CI] 1.37-15.81) to be classified as nonadherent as were children whose parents have depressed mood (OR 3.6, 95% CI 1. 16-11.41). Significance: This is the first study to apply the novel methodology of determining adherence via AED concentrations in clinic and home DBS samples. The present findings show that the latter, with further development, could be a useful approach to adherence assessment when combined with other measures including parent and child self-reporting. Seizure type and parental depressed mood were strongly predictive of nonadherence.

Introduction In recent years an increasing range of neurological syndromes has been associated with the emergence of novel influenza A:H1N1 (2009), and other influenza viruses. We aimed to describe the features of adults and children with neurological manifestations associated with influenza in the UK. Method A surveillance study was performed in conjunction with the BNSU and BPNSU* over a 24–month period (February 2011 to February 2013). Inclusion criteria specified acute neurological illness within 1 month of proven influenza infection and prospective case definitions were applied. Results Twenty–five cases were identified: 4 adults and 21 children [6 (23%) with pre–existing neurological disorders]. Four (16%) cases (all with encephalopathy syndromes) died. Twenty cases (80%) required admission to intensive care. Seventeen (68%) had Glasgow Outcome Scores of 2–5 indicating poor outcome. Polymerase chain reaction (PCR) of respiratory secretions identified: influenza A in 21 (20 H1N1) and influenza B in 4 cases. Two had co–infection with Streptococcus pneumoniae (one adult with septicaemia; one child with meningitis). Cerebrospinal fluid (CSF) revealed a pleocytosis in 3 out of 18 cases (median 184×106 cells/litre [range 16–900]). Influenza PCR was negative in all 10 CSF samples tested. Cerebral magnetic resonance imaging was performed in 3 cases, computerised tomography in 6, and 14 had both. Recognised acute encephalopathy syndromes were seen in 5, and non–specific changes including cerebral oedema and/or diffusion restriction in 5. For the 4 adults, 2 presented with acute extrapyramidal movement disorders, 1 with Guillain–Barré syndrome and 1 with acute encephalopathy. Of the 21 children, 17 presented with acute encephalopathy, 3 with encephalitis and 1 with acute dyskinesia. Encephalopathy syndromes were documented in 7 cases (6 children, 1 adult). They were characterised by their clinical presentation and neuroimaging and included 4 with Acute Necrotising Encephalopathy (ANE), 1 Acute Infantile Encephalopathy Predominantly Affecting the Frontal Lobes (AIEF), 1 Haemorrhagic Shock & Encephalopathy (HSE) syndrome and 1 Acute Haemorrhagic Leukoencephalopathy (AHL). Treatments included: systemic steroids in 4 cases, 1 had intravenous immunoglobulin, and 3 cases received both. None received plasma exchange. Influenza vaccination was indicated in eight cases, but none had received it. Conclusion This paediatric and adult UK cohort identified a severity of influenza related neurological manifestation not reported previously. Cases were more common in children, particularly those with underlying neurological conditions. Encephalopathy syndromes such as ANE, AIEF, HSE and AHL were seen more frequently in children and were associated with a worse outcome. Acute movement disorders and Guillain–Barré syndrome were identified more commonly in adults. Influenza related encephalopathy may be more common in those with abnormal genetically determined host inflammatory responses, but the virus itself is rarely detected in ...

Our results confirm the efficacy and tolerability of LEV in children with refractory epilepsies and demonstrate good response and retention rates at 12 months. It represents the largest cohort of paediatric patients published so far on LEV with a 1-year follow-up.

Neurologic problems were relatively common after pediatric liver transplantation and combined liver and bowel transplantations; however, the mortality was lower when compared with previously reported studies.