SUMMARYKetogenic diet (KD) is known to be effective in intractable epilepsy. However, the role of KD in refractory status epilepticus (RSE) has not been well described. The aim of this study is to explore the role of KD in patients with RSE. We retrospectively reviewed the medical records of four children and one adult with RSE between October 2006 and August 2010. All presented with status epilepticus (SE) that was presumed to be associated with viral encephalitis. After we failed to control the seizures with standard measures for SE, we tried KD. The overall seizure frequency decreased to <50% of baseline in median eight (1-19) days. At one month of KD, two patients were seizure-free, one patient showed >90% seizure reduction, and the others had >75% decrease without generalized seizures. With improvement in the RSE, we were able to taper the antiepileptic drugs (AEDs) and wean patients from prolonged mechanical ventilation. The adverse events of KD in RSE included aspiration pneumonia, gastroesophageal reflux, constipation, and hypertriglyceridemia. Those results demonstrate that KD can be a valuable therapeutic option for patients with RSE.

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Basal ganglia germinoma should be considered in the differential diagnosis of patients with progressive hemiparesis and hemiatrophy on magnetic resonance imaging. The MET PET was useful for diagnosis, and it can be valuable in evaluation of treatment effects and monitoring for tumor recurrence.

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Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.

Cognitive outcomes in late childhood and adolescence of neonatal hypoxic-ischemic encephalopathyRunning head: Long-term cognitive outcomes in neonatal hypoxic-ischemic encephalopathy

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Our objective was to elucidate the clinical characteristics and neurodevelopmental outcomes in neonatal encephalopathy with characteristic white matter injury as compared with other injury patterns on magnetic resonance diffusion-weighted imaging. We conducted a retrospective study comparing clinical and laboratory findings, and neurologic outcomes between 17 newborns with diffuse lesions in the periventricular white matter and white matter tract (group I) and 22 newborns with other patterns (group II). Stool samples indicated that 16 neonates (94.1%) in group I were rotavirus-positive, whereas none in group II had rotavirus infection. Significantly lower calcium levels were found in group I than in group II ( P < .001). Moreover, a more favorable neurodevelopmental outcome was observed in group I than in group II. This study suggests that characteristic white matter injury in neonatal encephalopathy may be related to decreased calcium levels induced by rotavirus, and may have a better neurodevelopmental prognosis than other causes.