Hee Joon Yu

The role of ketogenic diet in the treatment of refractory status epilepticus

Ketogenic 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.

Clinical features and genetic analysis of children with hyperekplexia in Korea.

Hyperekplexia is a rare inherited neurologic disorder that is characterized by hypertonia and an exaggerated startle response to sudden external stimuli. Until now, 5 genes are known to be associated with hyperekplexia: GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. In this report, we performed a clinical and genetic analysis of 4 Korean children with hyperekplexia. Two patients had typical clinical manifestations of hyperekplexia that initially were misdiagnosed as epilepsy. Direct sequencing of the GLRB and GLRA1 genes revealed 2 novel mutations, GLRB c.298-1G>A and c.1028C>T (p.S343F), in patient 1 and 1 novel mutation, GLRA1 c.895C>T (p.R299X), in patient 2. The other 2 familial cases, patients 3 and 4, exhibited startle responses, which appeared at the age of 1 year, and had global developmental delay. Those patients showed negative results for the 5 genes.

Clinical manifestations and treatment response of steroid in pediatric Hashimoto encephalopathy.

Hashimoto encephalopathy is a steroid-responsive encephalopathy associated with elevated titers of antithyroid antibodies. Clinical symptoms are characterized by behavioral and cognitive changes, speech disturbance, seizures, myoclonus, psychosis, hallucination, involuntary movements, cerebellar signs, and coma. The standard treatment is the use of corticosteroids along with the treatment of any concurrent dysthyroidism. Other options are immunoglobulins and plasmapheresis. We described symptoms and outcomes on 3 teenage girls with Hashimoto encephalopathy. Presenting symptoms were seizure or altered mental status. One patient took levothyroxine due to hypothyroidism before presentation of Hashimoto encephalopathy. After confirmation of elevated antithyroid antibodies, all patients were treated with steroids. One patient needed plasmapheresis because of the lack of response to steroids and immunoglobulins. Hashimoto encephalopathy should be considered in any patient presenting with acute or subacute unexplained encephalopathy and seizures. Even though the use of steroids is the first line of treatment, plasmapheresis can rescue steroid-resistant patients.

The efficacy and tolerability of rufinamide in intractable pediatric epilepsy.

Background and Purpose: Rufinamide (RUF) is a novel antiepileptic drug (AED) and its efficacy has been proven in Lennox-Gastaut syndrome (LGS). However, there is a lack of data regarding the efficacy in pediatric intractable epilepsies other than LGS. The purpose of the study was to explore the efficacy and tolerability of RUF in pediatric patients with intractable epilepsies as well as LGS. Methods: This retrospective observation study was conducted in Samsung medical center from August 2010 to September 2011. Thirty seven patients (27 males, 10 females, aged between 1.8 and 18.4 years), with refractory epilepsies or LGS were treated with RUF as an adjunctive drug. Efficacy was represented by the response rate and retention rate over the study period. Tolerability was measured as the number of patients who showed adverse effects. Results: The overall response rate was 21.6% during the 12 months of the study period with 5.4% of seizure-free patients. The retention rate was 54% and ineffectiveness was the most common reason for discontinuation of RUF. The most common adverse effects were insomnia and somnolence. Conclusions: RUF may be considered to be an efficacious and safe AED for pediatric patients with intractable epilepsies as well as LGS.

Clinical and ictal characteristics of infantile seizures: EEG correlation via long-term video EEG monitoring.

PURPOSE The semiology of infantile seizures often shows different characteristics from that of adults. We performed this study to describe clinical and ictal characteristics of infantile seizures at less than two years of age. METHODS A retrospective study was done for infants with epilepsy (ages: 1-24months) who underwent long-term video electroencephalography (EEG) monitoring at Samsung medical center between November 1994 and February 2012. We analyzed the clinical and ictal characteristics of the 56 cases from 51 patients. RESULTS In 69% of the patients, the seizure onset was before six months of age and the etiology was symptomatic in one third of the patients. Twelve seizure types were identified; spasms (24%), unilateral motor seizures (18%), and generalized tonic seizures (15%) were the three frequent types of seizure. All partial seizures were well correlated with the partial-onset ictal EEG, however 19.4% (7/36) of clinically generalized seizures revealed partial-onset ictal EEG. About one-thirds (4/11) of generalized tonic seizures had its ictal onset on unilateral or bilateral frontal areas and two out of seven generalized myoclonic seizures showed unilateral frontal rhythmic activities. Hypomotor seizures mainly arose from the temporal areas and hypermotor seizures from the frontal regions. CONCLUSIONS Even though most of the seizure semiology of infants is well correlated with ictal EEG, some of the generalized tonic seizures or myoclonic seizures revealed partial-onset ictal EEG suggesting localized epileptic focus. Accurate definition of seizures via video EEG monitoring is necessary for proper management of seizures in infancy, especially in some clinically generalized seizures.

Chordoid Meningioma in a Pediatric Patient with Tuberous Sclerosis Complex

Meningeal tumors are rare in childhood, comprising less than 4.2% of all pediatric primary intracranial tumors.1 Fourteen histological subtypes of meningiomas exist in the World Health Organization (WHO) classification system.2 Chordoid meningioma (CM) is a rare meningiomal variant characterized histologically by features that mimic chordoma and other chordoid neoplasms.2 Chordoid meningiomal tumors tend to exhibit local recurrence and aggressive behavior, although they typically show morphologically benign features. In a tuberous sclerosis complex (TSC) patient, hamartomas can occur in multiple organs and cause diverse clinical symptoms. Cortical tubers, subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) are representative lesions of TSC and can be detected by magnetic resonance imaging (MRI) of the brain.3 SEGA lesions have been found to occur in approximately 6.1% to 18.5% of TSC patients, and account for 90% of all intracranial tumors associated with TSC.4 SEGA lesions are commonly located in the foramen of Monro or the periventricular region,5 and can cause loss of vision, papillary edemas, intracranial calcification, and hydrocephalus.6 The primary method for treating SEGA lesions consists of surgical resection of the tumors; complete and early surgical removal of tumors has been shown to be the most important prognostic factor.6 Childhood CM has been shown to account for only ~0.5-1% of all meningiomas, with intraventricular occurrence of CM reported in only 27 children to date.2,7 Also, CM has not been reported in any TSC patients to date. Here we report a case of intraventricular CM, which appeared highly similar to SEGA in brain MRI scans, in a child with TSC.