PURPOSE: The aim of this study is to examine the SCN1A variants in Korean patients with Dravet syndrome. METHODS: We conducted a retrospective study of clinically confirmed thirty-nine patients with Dravet syndrome who visit our hospital from January 2007 to May 2015. We analyzed the SCN1A variants by direct sequencing. We analyzed and classified SCN1A variants according to ACMG/AMP (American College of Medical Genetics and Genomics and the Association for Molecular Pathology) guideline. RESULTS: A total thirty-nine patients (female 22, male 17) were included. Among them, twenty patients (51.2%) with Dravet syndrome had pathogenic or likely pathogenic SCN1A mutations including fifteen truncating mutations (12 nonsense and 3 splice region mutations), 5 missense mutations. The remained variants in nineteen patients with Dravet syndrome classified into ten variants of unknown significances, and 9 benign variants. In our study, truncation mutations are located whole span of SCN1A protein, while half of missense mutations are located at higher density on pore loop (S5-S6) regions. CONCLUSION: Unlike previous known study, lower positive rate of SCN1A mutation of Dravet syndrome was revealed in our study. The importance of parental test (trio test) and other additional tests have been emphasized.
Epilepsies, Myoclonic* ; Genetics, Medical ; Genomics ; Humans ; Male ; Mutation, Missense ; Parents ; Retrospective Studies

PURPOSE: The aim of this study is to examine the SCN1A variants in Korean patients with Dravet syndrome. METHODS: We conducted a retrospective study of clinically confirmed thirty-nine patients with Dravet syndrome who visit our hospital from January 2007 to May 2015. We analyzed the SCN1A variants by direct sequencing. We analyzed and classified SCN1A variants according to ACMG/AMP (American College of Medical Genetics and Genomics and the Association for Molecular Pathology) guideline. RESULTS: A total thirty-nine patients (female 22, male 17) were included. Among them, twenty patients (51.2%) with Dravet syndrome had pathogenic or likely pathogenic SCN1A mutations including fifteen truncating mutations (12 nonsense and 3 splice region mutations), 5 missense mutations. The remained variants in nineteen patients with Dravet syndrome classified into ten variants of unknown significances, and 9 benign variants. In our study, truncation mutations are located whole span of SCN1A protein, while half of missense mutations are located at higher density on pore loop (S5-S6) regions. CONCLUSION: Unlike previous known study, lower positive rate of SCN1A mutation of Dravet syndrome was revealed in our study. The importance of parental test (trio test) and other additional tests have been emphasized.
Epilepsies, Myoclonic* ; Genetics, Medical ; Genomics ; Humans ; Male ; Mutation, Missense ; Parents ; Retrospective Studies

OBJECTIVE: To evaluate the cardiopulmonary endurance of subjects with spinal cord injury by measuring the maximal oxygen consumption with varying degrees of spinal cord injury level, age, and regular exercise. METHODS: We instructed the subjects to perform exercises using arm ergometer on healthy adults at 20 years of age or older with spinal cord injury, and their maximal oxygen consumption (VO2max) was measured with a metabolic measurement system. The exercise proceeded stepwise according to the exercise protocol and was stopped when the subject was exhausted or when VO2 reached an equilibriu RESULTS: Among the 40 subjects, there were 10 subjects with cervical cord injury, 27 with thoracic cord injury, and 3 with lumbar cord injury. Twenty-five subjects who were exercised regularly showed statistically higher results of VO2max than those who did not exercise regularly. Subjects with cervical injury showed statistically lower VO2max than the subjects with thoracic or lumbar injury out of the 40 subjects with neurologic injury. In addition, higher age showed a statistically lower VO2max. Lastly, the regularly exercising paraplegic group showed higher VO2max than the non-exercising paraplegic group. CONCLUSION: There are differences in VO2max of subjects with spinal cord injury according to the degree of neurologic injury, age, and whether the subject participates in regular exercise. We found that regular exercise increased the VO2max in individuals with spinal cord injury.
Adult ; Aging ; Arm ; Exercise ; Exercise Test ; Humans ; Male ; Oxygen Consumption ; Spinal Cord Injuries*

PURPOSE: A variation in the circle of Willis is not so common, but the most frequent type is hypoplasia/aplasia of the precommunicating anterior cerebral arteries (A1 segment). We aimed to examine the incidence and the clinical significance of A1 segment hypoplasia/aplasia in neuropediatric patients. METHODS: We retrospectively studied children with A1 segment hypoplasia/aplasia in brain magnetic resonance angiography (MRA) and compared the clinical and radiological aspects between children with A1 segment hypoplasia/aplasia alone and with other variations in the circle of Willis. RESULTS: Among 301 patients, 34 patients (11.3%) had A1 segment hypoplasia/aplasia. They presented neurological symptoms such as chronic headache, dizziness and visual disturbance. Seven (20.6%) had family history of neurological illness. Twenty seven (79.4%) had A1 segment hypoplasia/aplasia only, and seven (20.6%) had another vascular abnormality. Seven (20.6%) showed abnormal brain magnetic resonance angiography (MRI) results, cerebral atrophy being the most frequent (n=5, 14.7%). The incidence of abnormal brain MRI was 11.1% (n=3) in single vascular abnormality and 57.1% (n=4), significantly higher (p-value 0.02) in combined abnormality group. CONCLUSION: Structural alterations in the cerebral vasculature in children have important pathophysiological and clinical implications. Evaluation of variations in the circle of Willis, especially of A1 segment hypoplasia/aplasia using MRA is recommended.
Anterior Cerebral Artery ; Atrophy ; Brain ; Child ; Circle of Willis ; Dizziness ; Headache Disorders ; Humans ; Incidence ; Magnetic Resonance Angiography ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Retrospective Studies

PURPOSE: Mitochondrial encephalopathy (ME) is a rare disorder of energy metabolism. The disease course can roughly be evaluated by clinical findings. The purpose of this study was to evaluate metabolic spectral changes using proton MR spectroscopy (MRS), and to establish a way to monitor ME by neuroimaging. MATERIALS AND METHODS: Proton MRS data were retrospectively reviewed in 12 patients with muscle biopsy-confirmed ME (M : F = 7 : 5, Mean age = 4.8 years). All received 1H-MRS initially and also after a ketogenic diet and mitochondrial disease treatment cocktail (follow up average was 10.2 months). Changes of N-acetylaspartate/creatine (NAA/Cr) ratio, choline/creatine (Cho/Cr) ratio, and lactate peak in basal ganglia at 1.2 ppm were evaluated before and after treatment. Findings on conventional T2 weighted MR images were also evaluated. RESULTS: On conventional MRI, increased basal ganglia T2 signal intensity was the most common finding with ME (n = 9, 75%), followed by diffuse cerebral atrophy (n = 8, 67%), T2 hyperintense lesions at pons and midbrain (n = 4, 33%), and brain atrophy (n = 2, 17%). Lactate peak was found in 4 patients; 2 had disappearance of the peak on follow up MRS. Quantitative analysis showed relative decrease of Cho/Cr ratio on follow up MRS (p = 0.0058, paired t-test, two-tailed). There was no significant change in NAA/Cr ratio. CONCLUSION: MRS is a useful tool for monitoring disease progression or impro-vement in ME, and decrease or disappearance of lactate peak and reduction of Cho/Cr fraction were correlated well with improvement of clinical symptoms.
Adolescent ; Child ; Child, Preschool ; Choline/metabolism ; Creatine/metabolism ; Female ; Humans ; Infant ; *Magnetic Resonance Spectroscopy ; Male ; Mitochondrial Encephalomyopathies/*pathology ; Retrospective Studies

PURPOSE: Schizencephaly is a uncommon congenital brain anomaly characterized by congenital clefts spanning the cerebral hemispheres from pial surface to lateral ventricles and lined by gray matter. In this study, we investigated the clinical manifestation and radiologic findings of pediatric schizencephaly. METHODS: The data of 13 patients who were diagnosed with schizencephaly in Severance Childrens Hospital and Yongdong Severance Hospital from January 2005 to December 2007 were analyzed retrospectively. RESULTS: The mean age at diagnosis was 9.08+/-2.67 months old and ranged from 1 to 30 months. The ratio of male to female patients was 3.33:1. Five (38.5%) patients had bilateral clefts, while 8 (61.5%) had unilateral clefts. Five (38.5%) patients had closed lip clefts, and 4 (30.8%) had opened lip clefts. Four (30.8%) patients had multiple clefts. Associated anomalies showed in all cases. The clinical features consisted of mild unilateral weakness in 7 (53.8%) cases and a hemiparesis was present in 3 (23.1%) patients. A tetraparesis was in 3 (23.1%) patients. There was no difference in motor deficit between unilateral and bilateral clefts. Delayed development was observed in all cases. Epilepsy was present in 7 (53.8%) patients, 5 patients with unilateral clefts and 2 patients with bilateral clefts. Three (42.8%) patients showed intractable seizures. CONCLUSION: Schizencephaly showed variable clinical manifestations and radiologic findings in association with the types and locations of the clefts. It is necessary to diagnose schizencephaly early and to detect the development of epilepsy. Intensive and large studies of the correlation of clinical outcomes and radiologic findings should be continued for more effective treatment.
Brain ; Cerebrum ; Child ; Epilepsy ; Female ; Humans ; Lateral Ventricles ; Lip ; Male ; Malformations of Cortical Development ; Neuroimaging ; Paresis ; Retrospective Studies ; Seizures

Mitochondrial cytopathies represent a heterogeneous group of multisystem disorder that preferentially affects the muscle and nervous systems. Mitochondrial respiratory chain enzyme complexes (MRC) defect can be the cause of many unexplained neurological disorders including epilepsy, cerebral palsy, delayed development and hypotonia. We retrospectively reviewed clinical and laboratory features of 16 patients who showed defects in MRC activity, confirmed by biochemical assay from spectrophotometry in muscles to characterize clinical and laboratory features for MRC defects and provide more precise diagnosis and effective treatments. In the patients with uncontrolled seizure activity, developmental regression, characteristic features of bilateral symmetric high signal intensity at deep nucleus and/or white matter in T2WI, the mitochondrial cytopathies should be added to the list of differential diagnoses. And lactate elevation in magnetic resonance spectroscopy (MRS) can be useful in the diagnosis of mitochondrial cytopathies.
Cerebral Palsy ; Child ; Diagnosis, Differential ; Electron Transport ; Epilepsy ; Humans ; Kearns-Sayre Syndrome ; Lactic Acid ; Magnetic Resonance Spectroscopy ; Mitochondrial Myopathies ; Muscle Hypotonia ; Muscles ; Nervous System ; Nervous System Diseases ; Retrospective Studies ; Seizures ; Spectrophotometry

BACKGROUND/AIMS: Heart rate variability (HRV) can be used to assess the effects of drugs and other interventions, including exercise, respiration, metabolic changes, and psychological or physical stressors, on cardiac autonomic tone. HRV is regulated by the balance of sympathetic and parasympathetic tone. Few studies pertaining to HRV in end stage renal disease (ESRD) patients have been performed in Korea. Thus, autonomic nervous system activity as indicated by HRV was investigated in patients on hemodialysis due to ESRD. METHODS: We compared the pattern of cardiac sympathetic and parasympathetic activity through time- and frequency- domain analyses of HRV with 24-hour Holter monitoring in 30 ESRD patients and 64 hypertensive control subjects. The ESRD patients had undergone hemodialysis therapy at the Bongseng Hospital between January 2006 and June 2007. RESULTS: The mean age of ESRD patients and hypertensive controls was 51.17+/-11.91 and 55.02+/-13.72 years, respectively. In the ESRD group, all time- and frequency-domain HRV measures, including the standard deviation of all normal sinus R-R intervals over 24 hours (SDNN), the HRV index, the very low-frequency (VLF) normalized unit of low-frequency (LFnorm), and the ratio of low-frequency power to high-frequency power (LF/HF), were reduced; the normalized unit of high frequency (HFnorm) was increased in the ESRD patients compared with the control group. CONCLUSION: The autonomic tone in ESRD patients on hemodiaysis was decreased compared with hypertensive patients. The parasympathetic tone in ESRD patients on hemodyalysis was dominant over the sympathetic tone.
Autonomic Nervous System ; Electrocardiography, Ambulatory ; Heart ; Heart Rate ; Humans ; Kidney Failure, Chronic ; Korea ; Renal Dialysis ; Respiration

An esophageal bezoar, although uncommon, is now recognized as a distinct clinical entity. An esophageal bezoar is rare but can form due to regurgitation of a gastric bezoar, motor disorder or anatomical abnormality, or following a gastrectomy. In general, bezoars are most often found in the stomach, and are formed by the accumulation of foreign ingested materials, including vegetable material and hair. In Korea, no case of a primary esophageal bezoar has been reported after a total gastrectomy. We report a case of an endoscopically treated primary esophageal bezoar that occurred after a total gastrectomy, without complications.
Bezoars ; Gastrectomy ; Hair ; Korea ; Stomach ; Vegetables

PURPOSE: Headaches occur frequently in the pediatric population and have a significant impact on their quality of life. Several mechanisms are currently thought to contribute to headache pathogenesis. Our aim was to investigate the association of chronic headache in children and cerebral vascular anomaly by performing brain magnetic resonance angiography (MRA). METHODS: We retrospectively reviewed medical records and MRA of 44 patients with chronic headache who visited the pediatric clinic of Young Dong Severance hospital from January 2006 to April 2008. RESULTS: The number of enrolled patients was 44. Eight(18.2%) of them showed abnormal brain MRA findings. Abnormal findings included 5 cases of unilateral A1 hypoplasia, 1 case of unilateral vertebral artery hypoplasia, 1 case of unilateral A1 and P1 hypoplasia, 1 case of Moyamoya disease. Among the 44 patients, 21 had complained only headache and 23 had complained other neurological symptoms with headache. The ratio of abnormal MRA between the two groups showed no statistical difference. CONCLUSION: Vascular anomaly could be a possible pathogenesis and risk factor in chronic headache in children. Further investigation and long term follow up is needed.
Brain ; Child ; Follow-Up Studies ; Headache ; Headache Disorders ; Humans ; Magnetic Resonance Angiography ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Medical Records ; Moyamoya Disease ; Quality of Life ; Retrospective Studies ; Risk Factors ; Vertebral Artery