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Summary: Purpose: Autonomic symptoms frequently occur during seizures. There are reports that the adult group of intractable epilepsy patients have different autonomic profile than the well controlled epilepsy, but there is no clear evidence in the children epilepsy group, therefore, we planned to study the autonomic profile in well controlled and refractory epilepsy children by recording the short-term heart rate variability (HRV). Methods: This cross sectional study was conducted in a tertiary care hospital between July 2008 and June 2009. Children with mean age of 9.1±3.3 years were enrolled. Three groups of children, 40 in each group namely, refractory epilepsy, well controlled epilepsy and normal control children were included. Children who had chronic systemic diseases and were on drugs that cause autonomic dysfunction were excluded. All children underwent short term heart rate variability testing. Data was analyzed in time domain and frequency domain. Results: pNN50 was significantly lower in children with refractory epilepsy than the well control as well as healthy controls. Rest of the parameters of time domain and frequency domain were comparable between the groups. Conclusions: Our study showed that parasympathetic activity is lower in refractory epilepsy children. However, autonomic tone is comparable in well control versus healthy controls. [Copyright &y& Elsevier]

Summary: Purpose: The ketogenic (lipid to non-lipid) ratio may play an important role in the efficacy and tolerability of ketogenic diets (KD). This study was planned to compare the efficacy and tolerability of 2.5:1 versus 4:1 lipid:non-lipid ratio KD in young children with refractory epilepsy. Methods: Children aged 6 months to 5 years with refractory epilepsy were enrolled. They were randomized to receive either a 4:1 or 2.5:1 ketogenic ratio diet, which was introduced using a non-fasting protocol. Seizure frequency, biochemical profile (liver and kidney function tests, fasting lipid profile, and spot urinary calcium–creatinine ratio), and adverse effects were recorded at three months in both groups. Results: Thirty eight children were enrolled, 19 in each group. At three months, 11 children (58%) in the 4:1 group and 12 (63%) in the 2.5:1 group had more than 50% reduction in seizures (p =0.78). Five children (26%) in the 4:1 group and four (21%) in 2.5:1 group became seizure free. There was no significant difference in the biochemical parameters between the two groups. Conclusion: 2.5:1 ratio KD is possibly as effective as 4:1 KD in controlling seizures and has fewer adverse effects. [Copyright &y& Elsevier]

A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the cerebral white matter with rarefaction and cystic degeneration, suggestive of vanishing white matter disease. The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis. [ABSTRACT FROM AUTHOR]