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Background and Purpose: Dietary therapy (DT), including the ketogenic diet (KD), is one of the nonpharmacological treatment options for patient with drug-resistant epilepsy. However, maintaining DT in patients without seizure reduction is very difficult, so it is critical for clinicians to decide when to stop this intervention., Methods: We retrospectively analyzed early clinical and laboratory findings and the clinical characteristics of children who received DT. The maintenance of DT and the clinical seizure frequency were assessed at 1, 3, 6, 12, and 24 months after KD initiation. Responders were defined as patients showing an overall reduction in seizure frequency of >50% relative to the baseline., Results: We included 67 patients who received DT, but only 23 (34.3%) of these patients remained on DT at 6 months. Only 1 (5%) of the 20 responders at 1 month became a nonresponder at 6 months. The response rate at 6 months was significantly higher among patients under 2 years of age (15/17, 88.2%) than older patients (2/6, 33.3%; p =0.021). Moreover, the 6-month responders were significantly younger (29.4±38.6 months, mean±SD) than the nonresponders (98.9±84.6 months, p =0.012) at the initiation of the diet. A high blood β-hydroxybutyrate (BHB) level at 1 month predicted a good DT response at 6 months., Conclusions: Most 1-month responders maintained their response on DT for up to 6 months. The blood BHB level at 1 month was significantly correlated with the 6-month seizure outcome. Confirming clinical and laboratory biomarkers for the efficacy of DT requires further studies with larger cohorts., Competing Interests: The authors have no potential conflicts of interest to disclose., (Copyright © 2021 Korean Neurological Association.)

Background and Purpose: Recent quantitative neuroimaging studies of childhood absence epilepsy (CAE) have identified various structural abnormalities that might be involved in the onset of absence seizure and associated cognitive and behavioral functions. However, the neuroanatomical alterations specific to CAE remain unclear, and so this study investigated the regional alterations of brain structures associated with newly diagnosed CAE., Methods: Surface and volumetric magnetic resonance imaging data of patients with newly diagnosed CAE ( n =18) and age-matched healthy controls ( n =18) were analyzed using Free-Surfer software. A group comparison using analysis of covariance was performed with significance criteria of p <0.05 and p <0.01 in global and regional analyses, respectively., Results: Compared with control subjects, the patients with CAE had smaller total and regional volumes of cortical gray-matter (GM) in the right rostral middle frontal, right lateral orbitofrontal, and left rostral middle frontal regions, as well as in the right precentral, right superior, middle, left middle, and inferior temporal gyri. The cortex in the right posterior cingulate gyrus and left medial occipital region was significantly thicker in patients with CAE than in controls., Conclusions: Patients with CAE showed a reduced bilateral frontotemporal cortical GM volume and an increased posterior medial cortical thickness, which are associated with the default mode network. These structural changes can be suggested as the neural basis of the absence seizures and neuropsychiatric comorbidities in CAE., Competing Interests: The authors have no potential conflicts of interest to disclose., (Copyright © 2020 Korean Neurological Association.)

Background and Purpose: The pathophysiologic mechanisms underlying benign convulsions with mild gastroenteritis (CwG) in children remain unclear. We investigated the incidence of ketosis in CwG and whether this is related to seizures., Methods: This retrospective study included children aged from 6 months to 6 years who visited our emergency department and were diagnosed as CwG between June 2015 and December 2018. The clinical and laboratory data were analyzed for these cases. Ketosis and severe ketosis were defined as blood β-hydroxybutyrate levels of ≥0.6 and ≥4.5 mmol/L, respectively., Results: We enrolled 42 pediatric CwG patients aged 21.0±11.5 months (mean±SD) whose blood β-hydroxybutyrate level was 3.65±1.51 mmol/L. Ketosis was observed in 95.2% of these children, while 35.7% had severe ketosis. Compared to the non-severe-ketosis group ( n =27), the severe-ketosis group ( n =15) demonstrated significantly lower blood glucose levels (68.8 vs. 82.6 mg/dL, p =0.020) and sodium levels (134.2 vs. 135.6 mEq/L, p =0.018), and included a larger proportion of low-body-weight children (defined as adjusted weight <50th percentile for age and sex) (53.3% vs. 18.5%, p =0.019). However, the incidence of repetitive seizures (two or more during an illness period) did not differ between these groups. Moreover, severe ketosis was not associated with the risk of seizure recurrence in the emergency department., Conclusions: Children with CwG are in a state of considerable ketosis. Severe ketosis in CwG may be associated with low blood glucose and sodium levels but does not reduce seizure recurrence., Competing Interests: The authors have no potential conflicts of interest to disclose., (Copyright © 2020 Korean Neurological Association.)

Background and Purpose: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gene is considered a phenotype modifier. We investigated the genotype-phenotype correlation of SMN1 and NAIP deletions in Korean SMA patients., Methods: Thirty-three patients (12 males and 21 females) treated at the Asan Medical Center between 1999 and 2013 were analyzed retrospectively. The polymerase chain reaction (PCR), restriction-fragment-length polymorphism analysis, and multiplex PCR were used to detect deletions in SMN1 (exons 7 and 8) and NAIP (exons 4 and 5). We reviewed clinical presentations and outcomes and categorized the patients into three clinical types. NAIP deletion-driven differences between the two genotypes were analyzed., Results: Deletion analysis identified homozygous deletions of SMN1 exons 7 and 8 in 30 patients (90.9%). Among these, compared with patients without an NAIP deletion, those with an NAIP deletion showed a significantly lower age at symptom onset (1.9±1.7 months vs. 18.4±20.4 months, mean±SD; p=0.007), more frequent type 1 phenotype (6/6 vs. 8/24, p=0.005), and worse outcomes, with early death or a requirement for ventilator support (4/4 vs. 2/12, p=0.008)., Conclusions: Homozygous deletion in SMN1 and a concurrent NAIP deletion were associated with an early onset, severe hypotonia, and worse outcome in SMA patients. Deletion analysis of NAIP and SMN1 can help to accurately predict prognostic outcomes in SMA., Competing Interests: The authors have no financial conflicts of interest.

Background and Purpose: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. Epilepsy and other neuropsychiatric (NP) manifestations of this genetic syndrome are not uncommon, but they are also not well-understood. We sought to identify the characteristics of epilepsy and other associated NP manifestations in patients with 22q11.2DS., Methods: We retrospectively analyzed the medical records of 145 child and adolescent patients (72 males and 73 females) with genetically diagnosed 22q11.2DS. The clinical data included seizures, growth chart, psychological reports, development characteristics, school performance, other clinical manifestations, and laboratory findings., Results: Of the 145 patients with 22q11.2DS, 22 (15.2%) had epileptic seizures, 15 (10.3%) had developmental delay, and 5 (3.4%) had a psychiatric illness. Twelve patients with epilepsy were classified as genetic epilepsy whereas the remaining were classified as structural, including three with malformations of cortical development. Patients with epilepsy were more likely to display developmental delay (odds ratio=3.98; 95% confidence interval=1.5-10.5; p=0.005), and developmental delay was more common in patients with structural epilepsy than in those with genetic epilepsy., Conclusions: Patients with 22q11.2DS have a high risk of epilepsy, which in these cases is closely related to other NP manifestations. This implies that this specific genetic locus is critically linked to neurodevelopment and epileptogenesis.

Background and Purpose: To determine how cognitive function is related to epilepsy classification and comorbid attention deficit hyperactivity disorder (ADHD) in children with newly diagnosed epilepsy of genetic or unknown etiology., Methods: The medical records of children aged 6-16 years with newly diagnosed epilepsy of genetic or unknown etiology were reviewed retrospectively. The Korean Education Development Institute-Wechsler Intelligence Scale for Children and the Comprehensive Attention Test were used to evaluate intelligence and attention/executive function, respectively., Results: The data of a total of 149 children, 103 with focal seizures and 46 with generalized seizures, were reviewed. The prevalence of ADHD was 49.2% (59 out of 120 examined patients), and ADHD patients exhibited significantly worse auditory selective attention, flanker test results, and spatial working memory. Patients with generalized seizures exhibited significantly worse auditory selective and sustained attention than patients with focal seizures. In patients with generalized seizures, sustained attention, flanker test findings, and spatial working memory were found to be affected by ADHD, and auditory selective and sustained attention were significantly worse in patients with benign childhood epilepsy with centrotemporal spikes and ADHD than in their counterparts without ADHD., Conclusions: Cognitive processes are affected by seizure type and comorbid ADHD. Proper characterization of these neuropsychiatric impairments may allow earlier intervention during the disease course.

Background and Purpose: Hemispherectomy reportedly produces remarkable results in terms of seizure outcome and quality of life for medically intractable hemispheric epilepsy in children. We reviewed the neuroradiologic findings, pathologic findings, epilepsy characteristics, and clinical long-term outcomes in pediatric patients following a hemispheric disconnection., Methods: We retrospectively studied 12 children (8 males) who underwent a hemispherectomy at Asan Medical Center between 1997 and 2005. Clinical, EEG, neuroradiological, and surgical data were collected. Long-term outcomes for seizure, motor functions, and cognitive functions were evaluated at a mean follow-up of 12.7 years (range, 7.6-16.2 years) after surgery., Results: The mean age at epilepsy onset was 3.0 years (range, 0-7.6 years). The following epilepsy syndromes were identified in our cohort: focal symptomatic epilepsy (n=8), West syndrome (n=3), and Rasmussen's syndrome (n=1). Postoperative histopathology of our study patients revealed malformation of cortical development (n=7), encephalomalacia as a sequela of infarction or trauma (n=3), Sturge-Weber syndrome (n=1), and Rasmussen's encephalitis (n=1). The mean age at surgery was 6.5 years (range, 0.8-12.3 years). Anatomical or functional hemispherectomy was performed in 8 patients, and hemispherotomy was performed in 4 patients. Eight of our 12 children (66.7%) were seizure-free, but 3 patients with perioperative complications showed persistent seizure. Although all patients had preoperative hemiparesis and developmental delay, none had additional motor or cognitive deficits after surgery, and most achieved independent walking and improvement in daily activities., Conclusions: The long-term clinical outcomes of hemispherectomy in children with intractable hemispheric epilepsy are good when careful patient selection and skilled surgical approaches are applied.

Background: Myotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of the patients with the X-linked recessive form., Case Report: This report describes two male infants with X-linked MTM (XLMTM). Both patients presented with generalized hypotonia and respiratory difficulties since birth. We did not perform a muscle biopsy in either patient, but their conditions were diagnosed by genetic testing of MTM1. One splicing mutation, c.63+1G>C, and a frame-shift mutation, c.473delA (p. Lys158SerfxX28), were identified. Neither mutation has been reported previously., Conclusions: Genetic testing for MTM1 is helpful for the differential diagnosis of floppy male infants. We suggest that advanced molecular genetic testing may permit a correct diagnosis while avoiding invasive procedures.