• Journal of the Korean Child Neurology Society
• /
• v.26 no.4
• /
• pp.280-283
• /
• 2018

Magnetic resonance imaging (MRI) is recommended for patients with epileptic seizures to rule out an underlying focal lesion. However, abnormalities in idiopathic generalized epilepsy, including childhood absence epilepsy, cannot usually be identified using brain imaging modalities such as MRI. Peri-ictal MRI abnormalities have been most commonly reported secondary to status epilepticus and are rarely observed in patients with focal seizures and generalized tonic-clonic seizures. Transient peri-ictal MRI abnormalities in absence epilepsy are extremely rare. A five-year-old girl presented with a three-day history of absence seizures that persisted despite continued treatment with sodium valproate. Electroencephalography showed bursts of generalized 3-Hz spike-and-wave discharges, during and after hyperventilation. Abnormal cortex thickening in the left perisylvian region was detected on T2-weighted brain MRI, and cortical dysplasia or a tumor was suspected. The patient started treatment with lamotrigine and was seizure-free after one month. The abnormal MRI lesion was completely resolved at the two-month follow-up. We report on a patient with childhood absence epilepsy and reversible brain MRI abnormalities in the perisylvian region. To our knowledge, this is the first report of transient MRI abnormalities after absence seizures. Transient peri-ictal MRI abnormalities should be considered for differential diagnosis in patients with absence seizures and a focal abnormality on brain MRI.

• Journal of the Korean Child Neurology Society
• /
• v.26 no.4
• /
• pp.272-275
• /
• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• Clinical and Experimental Pediatrics
• /
• v.50 no.7
• /
• pp.672-677
• /
• 2007

Purpose : To assess the prevalence and characteristics of headache comorbidity with epilepsy in children and adolescents in a specialty epilepsy clinic. Methods : Two hundred twenty nine consecutive patients attending the Chosun University Hospital Pediatric Epilepsy Clinic (mean age $10.0{\pm}4.1\;years$, range 4-17, M:F ratio 1.1:1.0) were interviewed with a standardized headache questionnaire. Headache was classified according to the International Classification of Headache Disorders, 2nd Edition and epilepsy was classified according to the International League Against Epilepsy. Disability was assessed using pediatric migraine disability assessment (PedMIDAS). Results : Of the 229 epilepsy patients, 86 (37.6%) had co-morbid headache. Of the headache patients, 64 (74.4%) had migraine (65.6%- migraine without aura, 20.3% - migraine with aura, 14.1% - probable migraine). The mean headache frequency was $7.2{\pm}8.4$ per month, mean duration was $2.2{\pm}4.0$ hours, mean severity was $5.2{\pm}2.2$ out of 10, and mean PedMIDAS score was $13.0{\pm}35.4$. The proportion of females was not higher in epilepsy with headache patients (48.8%) compared to epilepsy patients alone (48.0%). In the patients with migraine, 48.4% had complex partial seizures, 17.2% had simple partial seizures, and 34.4% had generalized seizures (P=0.368). A postictal association of migraine was reported in 18.8% with 17.2% reporting a preictal headache, and 7.8% reporting an ictal headache. Conclusion : The prevalence of headache in pediatric epilepsy is higher than that in general pediatric population, suggesting a co-morbidity of headache in epilepsy patients with migraine being the most frequent headache disorder. Altered cerebral excitability resulting in an increased occurrence of spreading depression may explain the headache comorbidity with epilepsy. Further studies are needed to assess the etiology of this co-morbidity as well as assess the frequency, duration, severity and disability response to antiepileptic drugs.

• Clinical and Experimental Pediatrics
• /
• v.55 no.12
• /
• pp.487-490
• /
• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.29-31
• /
• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.14-18
• /
• 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.13 no.2
• /
• pp.91-94
• /
• 2017

Hypercementosis is an excessive deposition of secondary cementum on the root of a tooth. It is mostly presented as a solitary lesion or in rare cases as a generalized type, but which is seldom recognized; typically it is discovered during regular dental X-ray. Increased thickness of cementum is not uncommon but generalized hypercementosis on impacted permanent teeth which may cause delayed eruption is rarely reported. This case report discusses a patient with cerebral palsy, epilepsy and mental retardation that presents multiple hypercementosis with delayed eruption. On intraoral examination, multiple retained primary molar teeth were found. As there was no any further symptoms, regular dental checkup had been done for several years. In 2015, a surgical opening was performed in the second molar area, but there was no specific change. Panoramic view showed multiple impacted permanent teeth with increased thickness of roots due to excessive deposition of cementum. Hypercementosis was also observed in the root of the erupted tooth. Several laboratory test results including hormone, urine, complete blood count test were reviewed. The patient was also diagnosed with subclinical hypothyroidism, impaired fasting glucose and had been taken valproic acid($Orfil^{(R)}$) for 10 years. However, none of them clearly explained generalized hypercementosis or delayed eruption. The patient is now 24 years old and regular dental checkups and radiographs are taken to confirm that there is no change in the lesion.

• Clinical and Experimental Pediatrics
• /
• v.53 no.4
• /
• pp.560-564
• /
• 2010

Purpose : Electroencephalography (EEG) findings can play a critical role in a variety of decisions, including initiation and withdrawal of antiepileptic drugs (AEDs) therapy. Interictal epileptiform discharges (IEDs) are predictor of recurrent seizures. We investigated IEDs in EEG after AED therapy and related factors in epileptic children. Methods : The subjects were 257 children [151 males and 106 females; age, 6.79 (3.40) years; duration of therapy, 2.48 (1.85) years] diagnosed with epilepsy at the Department of Pediatrics, Pusan National University Hospital between January 2001 and December 2007, who received AEDs for more than 6 months. EEG was performed at the intervals of 6-12 months. We divided patients into 4 groups according to IED detection before and after AEDs treatment. Related clinical factors, including gender, age at the start of treatment, seizure type, cause of seizure, AED frequency, seizure control, duration of AED therapy, and background activity were investigated in the 4 groups. Results : Generalized epilepsy was relatively frequen in patients who did not show IEDs in last follow-up EEG. There were no clinically significant differences according to gender, age at the start of treatment, cause of seizure, AED frequency, seizure control, duration of AED medication, and background activity in the 4 groups ($P$>0.05). Conclusion : IEDs changed after AED treatment in one-third of the patients. Generalized epilepsy is positive factor for negative IEDs in last follow-up EEG.

• Journal of Yeungnam Medical Science
• /
• v.3 no.1
• /
• pp.383-386
• /
• 1986

Enlargement of the gingiva caused by phenitoin, an anticonvulsant used in the treatment of epilepsy, occurs in some of the patients receiving the drug. Its incidence varies from 3 to 62 percent, with the greater frequencies in younger patients. The hyperplasia is usually generalized throughout the mouth, but is more severe tendency in the maxillary and mandibular anterior regions, 18 year old male patient was admitted to our Department of Dentistry with the complaint of generalized painless gingival swelling. After the consult of the N.M. and laboratory study, the gingivectomy and gingivoplasty was performed. The periodontal pack and tin foil was applied on the attached gingiva to protect a surgical site and bleeding control. We obtained a good result of improved esthetics and function.

• Archives of Craniofacial Surgery
• /
• v.22 no.2
• /
• pp.119-121
• /
• 2021

Ketamine is used widely in emergency departments for a variety of purposes, including procedural sedation for facial laceration in pediatric patients. The major benefits are its rapid onset of effects, relatively short half-life, and lack of respiratory depression. The known side effects of ketamine are hallucinations, dizziness, nausea, and vomiting. Seizure is not a known side effect of ketamine in patients without a seizure history. Here, we present the case of a patient in whom ketamine likely induced a generalized tonic-clonic seizure when used as a single agent in procedural sedation for facial laceration repair. The aim of this article is to report a rare and unexpected side effect of ketamine used at the regular dose for procedural sedation. This novel case should be of interest to not only emergency physicians but also plastic surgeons.