Analysis of Retinal Nerve Fiber Layer Thickness in Pediatric Migraine Using Optical Coherence Tomography

Purpose@#We investigated disparities in retinal nerve fiber layer (RNFL) thickness surrounding the optic disc among pediatric migraine patients based on the presence of a concomitant visual aura. @*Methods@#We used optical coherence tomography to measure RNFL thickness around the optic disc in children with migraines and no organic diseases, along with a control group of healthy children. Differences in RNFL thickness were analyzed based on the pattern of prognostic symptoms. Additionally, we investigated the effects of migraine duration and frequency on RNFL thickness. @*Results@#In total, 45 children with migraine and 30 healthy controls were enrolled in this study. Among the children with migraine, 15 experienced visual aura, whereas 30 did not exhibit visual aura. Visual prognostic symptoms included blurred vision, scotoma, and scintillating scotoma. Seven children presented with blurred vision and scotoma, whereas eight reported scintillating scotomas. The mean RNFL thickness around the optic disc was significantly lower in patients with blurred vision and scotomas (89.19 ± 7.99 μm) compared with the control group (98.79 ± 8.49 μm), patients without visual aura (100.55 ± 6.43 μm), and patients with scintillating scotoma (102.21 ± 10.13 μm, p < 0.05). @*Conclusions@#RNFL thickness around the optic disc was significantly reduced in children with migraine who reported symptoms of blurred vision and scotoma.

A case of toxic epidermal necrolysis due to topiramate

Topiramate is an antiepileptic drug effective for multiple types of seizure and is also used to prevent migraine attack. Several side effects have been reported, such as metabolic acidosis, nephrolithiasis, anorexia, weight reduction, drowsiness, glaucoma, hyperthermia, and cognitive dysfunction, whereas skin manifestationis were rarely reported. We report a case of a 12-year-old girl on medication of topiramate for 8 months due to focal epilepsy. She had fever, sore throat, burning sense in the vaginal area, and then flaccid bullae and erythematous patches proceeded to the whole bodyskin and mucosa including the conjunctiva, oral cavity, and genital areas. She was diagnosed with toxic epidermal necrolysis (TEN) and improved after the discontinuation of topiramate and with administration of high-dose intravenous steroid and immunoglobulin. We, herein, report a girl who developed severe side effects on the skin, TEN, due to topiramate.

Evaluation of hematologic profile may be needed for patients treated with oxcarbazepine / 소아과

PURPOSE: The major side effects of treatment with oxcarbazepine (OXC) are skin rash and hyponatremia. Hematologic side effects are reported rarely. The aim of this study was to investigate the rate and types of the hematologic side effects of OXC. METHODS: The medical records of 184 patients diagnosed with epilepsy or movement disorder and on OXC monotherapy, at the Department of Pediatrics of Inje University Sanggye Paik Hospital from July 2001 to July 2018, were retrospectively reviewed. RESULTS: Of the 184 patients, 10 (5.4%) developed leukopenia in addition to pancytopenia and 2 (1.0%) developed pancytopenia. Leukopenia developed in 11 days to 14 years after OXC administration and was more frequent in males than in females (male vs. female, 9 vs. 1; Fisher exact test, P0.05, t-test). CONCLUSION: OXC-induced leukopenia is not rare and may result in pancytopenia. Patients being treated with OXC should be regularly monitored for abnormal complete blood count profiles.

A long-term subacute sclerosing panencephalitis survivor treated with intraventricular interferon-alpha for 13 years / 소아과

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, and fatal central nervous system disorder resulting from persistent measles virus infection. Long-term data are scarce, with a maximum follow-up period of 10 years. Interferon-alpha (IFN-α) is a protein that exerts its antiviral activity via enhancement of cellular immune response and is reported to be an effective drug for the treatment of SSPE. However, there is currently no consensus regarding the optimal duration of IFN-α therapy. Here, we present a case report of a patient with SSPE treated with long-term intraventricular IFN-α therapy, which facilitated clinical improvement and neurological stabilization without causing serious adverse effects. To the best of our knowledge, this is one of the longest follow-up studies investigating a patient with SSPE receiving intraventricular INF-α treatment. Further studies are necessary to validate the benefits and safety of long-term intraventricular IFN-α treatment in patients with SSPE.

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome

No abstract available.

A Child with Mycoplasma pneumoniae-related Encephalitis Presenting as Hyperactive Behavior Change / 대한소아신경학회지

Mycoplasma pneumoniae is a respiratory pathogen responsible for various upper and lower respiratory tract diseases. This also induces extra-pulmonary manifestations, with encephalitis being the most frequent and critical manifestation in pediatric populations. This report describes an 8-year-old boy who presented with repetitive motions in both hands, agitation, muttering and increased appetite after seizure. He had started treatment with antibiotics for M. pneumoniae infection 14 days prior to this event. Electroencephalography (EEG) showed slow and disorganized background rhythms and polymorphic slowing on both frontal areas, whereas brain magnetic resonance imaging was normal. He was diagnosed with M. pneumoniae-related encephalitis and treated with intravenous immunoglobulin (500 mg/kg/day for 4 days). After 3 days, his impulsive behaviors disappeared and, after 4 days, his EEG became normal. Abrupt hyperactive behavior in children may be a sign of M. pneumoniae-related encephalitis.

Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl / 소아과

Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in the PRRT2 gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and a PRRT2 mutation.

Prognostic factors of neurological outcomes in late-preterm and term infants with perinatal asphyxia / 소아과

PURPOSE: This study aimed to identify prognostic factors of neurological outcomes, including developmental delay, cerebral palsy and epilepsy in late-preterm and term infants with perinatal asphyxia. METHODS: All late-preterm and term infants with perinatal asphyxia or hypoxic-ischemic insults who admitted the neonatal intensive care unit of Inje University Sanggye Paik Hospital between 2006 and 2014 and were followed up for at least 2 years were included in this retrospective study. Abnormal neurological outcomes were defined as cerebral palsy, developmental delay and epilepsy. RESULTS: Of the 114 infants with perinatal asphyxia, 31 were lost to follow-up. Of the remaining 83 infants, 10 died, 56 had normal outcomes, and 17 had abnormal outcomes: 14 epilepsy (82.4%), 13 cerebral palsy (76.5%), 16 developmental delay (94.1%). Abnormal outcomes were significantly more frequent in infants with later onset seizure, clinical seizure, poor electroencephalography (EEG) background activity, lower Apgar score at 1 and 5 minutes and abnormal brain imaging (P<0.05). Infants with and without epilepsy showed significant differences in EEG background activity, clinical and electrographic seizures on EEG, Apgar score at 5 minutes and brain imaging findings. CONCLUSION: We should apply with long-term video EEG or amplitude integrated EEG in order to detect and management subtle clinical or electrographic seizures in neonates with perinatal asphyxia. Also, long-term, prospective studies with large number of patients are needed to evaluate more exact prognostic factors in neonates with perinatal asphyxia.

The relationship between primary headache and constipation in children and adolescents / 소아과

PURPOSE: Many patients presenting with headache also complain of constipation; the relationship between these two symptoms has not been explored in detail. The aim of this study was to investigate the association between primary headache and constipation. METHODS: This retrospective study included all children who attended the Inje University Sanggye Paik Hospital complaining of headache, and who had been followed up for at least 100 days. Patients were divided into 2 groups: group A, in whom the headache improved after treatment for constipation, and group B, in whom headache was not associated with constipation. RESULTS: Of the 96 patients with primary headache, 24 (25.0%) also had constipation (group A). All 24 received treatment for constipation. Follow-up revealed an improvement in both headache and constipation in all patients. Group B contained the remaining 72 children. Comparison of groups A and B indicated a significant difference in sex ratio (P=0.009, chi-square test). Patients with probable tension-type headache were more likely to be in Group A (P=0.006, chi-square test). CONCLUSION: Resolution of constipation improves headache in many patients diagnosed with primary headache, especially those with probable tension-type headache. We suggest that either constipation plays a key role in triggering headache, or that both constipation and headache share a common pathophysiology.

A Case of Developmental Regression with Hypsarrhythmia on EEG Treated with Pulse Methylprednisolone

Infantile spasms (IS) is a type of epileptic encephalopathy with poor developmental outcomes. The goal of treatment is complete control of spasms, improvement of hypsarrhythmia, and rapid reversal of delayed development. Improvements in diagnosis can result in the selection of appropriate therapy, which can improve a patient's developmental outcomes. However, there is no consensus on the best initial treatment for IS. Here, we describe 6-month-old boy with severe periventricular leukomalacia, developmental regression, and hypsarrhythmic pattern on electroencephalography, who was successfully treated with intravenous methylprednisolone.

Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools / 소아과

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and spasticity, and genetic analysis can confirm the diagnosis. Further diagnostic manifestations of the disease include a lack of myelination on brain magnetic resonance (MR) imaging and aberrant N-acetyl aspartate (NAA) and choline concentrations that reflect axonal and myelination abnormalities on phroton MR spectroscopy. We report 5 cases of PMD (in 1 girl and 4 boys). PLP1 duplication was detected in 2 patients. Brain MR analyses and MR spectroscopy were performed for all the patients. The brain MR images showed white matter abnormalities typical of PMD, and the MR spectroscopic images showed diverse patterns of NAA, creatinine, and choline concentrations. We propose that MR spectroscopic analysis of metabolic alterations can aid the PMD diagnosis and can contribute to a better understanding of the pathogenesis of the disease.

Comparison of Clinical Manifestation and Laboratory Findings between H1N1 and Influenza B Infection / 소아알레르기및호흡기학회지

PURPOSE: Influenza virus is one of the most important viruses that cause the respiratory infection seasonally. In April 2009, H1N1 was detected in America and Mexico and then there was pandemic in Korea. We investigated the difference of clinical and laboratory findings between the infections of H1N1 and Influenza B. METHODS: We have retrospectively studied the patients under age of 15 years who visited Inje University Sanggye Paik Hospital from August 2009 to April 2010. Evaluation for influenza infection was performed by rapid antigen test or multiplex reverse transcriptase polymerase chain reaction. Complete blood count with differential counts, C-reactive protein and chest X-ray were checked. RESULTS: Enrolled patients were 2,226 in H1N1-infected group and 288 in influenza B-infected group. Seasonal variation was that H1N1 in autumn and winter but influenza B in spring. The male-to-female sex ratio was same as 1.23 in each group. The mean age of H1N1-infected group was higher than influenza B-infected group (P<0.001). Fever was developed similarly in both groups (P=0.114). However, cough, sputum, rhinorrhea, vomiting, diarrhea, and headache were more prevalent in influenza B infection compared to H1N1 infection (P<0.001). Pneumonia development and admission rate were higher in influenza B infection compared to H1N1 infection (P<0.001, respectively). CONCLUSION: Although H1N1 infection spread rapidly, H1N1 caused not so severe symptoms than influenza B. Because of the possibility that influenza epidemic will develop repeatedly in the future, we need to evaluate more about different characteristics depending on the virus subtype and prepare for them.

A case of acute necrotizing encephalopathy associated with parainfluenza virus infection / 소아과

Acute necrotizing encephalopathy (ANE) may be suspected when a young child presents with abrupt onset of altered mental status, seizures, or both. Definitive clinical diagnosis is based on magnetic resonance imaging (MRI) results. ANE is associated with influenza virus infections. Preliminary data suggests that up to 25% of ANE patients die, and up to 25% of ANE survivors develop substantial neurologic sequelae. Here, we describe a case of a comatose 22-month-old girl who was admitted to our hospital because of febrile illness and seizures. On day 13 of her illness, she died from ANE associated with infection from parainfluenza virus. Brain MRI results indicated diffuse bilateral symmetric signal changes in both basal ganglia, thalami, periventricular white matter, pons, and cerebral white matter, as well as generalized swelling of the brain.

Cognitive function of idiopathic childhood epilepsy / 소아과

Most children with epilepsy are of normal intelligence. However, a significant subset will have temporary or permanent cognitive impairment. Factors that affect cognitive function are myriad and include the underlying neuropathology of the epilepsy, seizures, epileptiform discharges, psychosocial problems, age at seizure onset, duration of epilepsy, and side effects associated with antiepileptic drugs. This review article discusses cognitive function in children with idiopathic epilepsy and the effects of antiepileptic drugs on cognitive function in children.

Clinical and Genetic Characteristics of Prader-Willi Syndrome and Angelman Syndrome

PURPOSE: Two different disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the deletion of 15q11-13 or the maternal/paternal uniparental disomy of chromosome 15 (mUPD(15)/pUPD(15)) through the genomic imprinting phenomenon. We studied the clinical manifestations of both diseases and genotype-phenotype correlations in PWS. METHODS: We retrospectively analyzed medical records of patients who had been genetically confirmed as PWS or AS from December 1998 to March 2010 at Asan Medical Center. Clinical characteristics at diagnosis and genetic causes were reviewed. In PWS, clinical characteristics of the patients with microdeletions were compared with those with mUPD(15). RESULTS: During the study period, we found 90 patients with PWS and 30 with AS. In cases of PWS, the male to female ratio was 1.65:1 and the mean age at initial diagnosis was 41 months. Symptoms at first diagnosis were hypotonia (70 cases) and developmental delay (66 cases). More hypopigmentation and eye abnormalities occurred in the microdeletion group (n=62) than in the mUPD(15) group (n=21). In AS, the male to female ratio was 1.3:1 and the mean age at initial diagnosis was 23 months. Distinguishing symptoms were speech impairment, seizure, and behavioral uniqueness. Microdeletion by FISH was detected in 19 patients among 20 patients and one of the non-deletion patient showed pUPD(15) on a DNA methylation test. CONCLUSION: PWS and AS, two distinct neurogenetic disorders with different clinical presentations were the first known examples of human diseases involving imprinted genes. This study about clinical characteristics and genetic analysis of PWS and AS may help our understanding of these diseases and thus, assist in making correct diagnoses.

The Complication after Lumbar Puncture in Patients in Children and Adolescents

PURPOSE: Children and adolescents develop different kinds of complication, such as back pain or headache after lumbar puncture. But there are few researches about complications after lumbar puncture. So we investigated the incidence of complications and the factors that might influence the occurrence of complications. METHODS: We reviewed the medical record of 101 patients who have conducted lumbar puncture because they were suspected of meningitis between April 2008 and August 2008 at Sanggye Paik Hospital. We evaluated for the existence of complications and the factors that might influence postlumbar complications. RESULTS: The total incidence of complications was 58 of 101(57.4%) patients. The complications were as followed; backache(47/101, 46.5%), headache(16/101, 15.8%), leg pain (14/101, 13.9%), nausea and vomiting(5/101, 5%) and dizziness(3/101, 3%). There was no significant correlation between various factors and the occurrence of the complications. But patients who had conducted lumbar puncture with 21-gauge or 22-gauge suffered longer duration of backache than 24-gauge cannula. CONCLUSION: The occurrence of complications after lumbar puncture was 57.4% and the complications were various, for example, backache, headache, leg pain and so on. Patient's age, gender, disposable puncture needle, and character of CSF(cerebrospinal fluid) were not correlated to the occurrence and duration of complications. But patients who had conducted lumbar puncture with large gauge cannula suffered longer duration of backache.

Multicenter clinical study of childhood periodic syndromes that are common precursors to migraine using new criteria of the International Classification of Headache Disorders (ICHD-II) / 소아과

PURPOSE: To evaluate the clinical features and characteristics of childhood periodic syndromes (CPS) in Korea using the new criteria of the International Classification of Headache Disorders (ICHD)-II. METHODS: The study was conducted at pediatric neurology clinics of five urban tertiary-care medical centers in Korea from January 2006 to December 2007. Patients (44 consecutive children and adolescents) were divided into three groups (cyclic vomiting syndrome [CVS], abdominal migraine [AM], and benign paroxysmal vertigo of childhood [BPVC]) by recurrent paroxysmal episodes of vomiting, abdominal pain, dizziness, and/or vertigo using the ICHD-II criteria and their characteristics were compared. RESULTS: Totally, 16 boys (36.4%) and 28 girls (63.6%) were examined (aged 4-18 yr), with 20 CVS (45.5%), 8 AM (18.2%), and 16 BPVC (36.4%) patients. The mean age at symptom onset was 6.3+/-3.6 yr, 8.5+/-2.7 yr, and 8.5+/-2.9 yr in the CVS, AM, and BPVC groups, respectively, showing that symptoms appeared earliest in the CVS group. The mean age at diagnosis was 8.0+/-3.4 yr, 10.5+/-2.6 yr, and 10.1+/-3.2 yr the CVS, AM, and BPVC groups, respectively. Of the 44 patients, 17 (38.6%) had a history of recurrent headaches and 11 (25.0%) showed typical symptoms of migraine headache, with 5 CVS (25.0%), 2 AM (25.0%), and 4 BPVC (25.0%) patients. Family history of migraine was found in 9 patients (20.4%): 4 in the CVS group (20.0%), 2 in the AM group (25.0%), and 3 in the BPVC group (18.8%). CONCLUSION: The significant time lag between the age at symptom onset and final diagnosis possibly indicates poor knowledge of CPS among pediatric practitioners, especially in Korea. A high index of suspicion may be the first step toward caring for these patients. Furthermore, a population-based longitudinal study is necessary to determine the incidence and natural course of these syndromes.

Multicenter clinical study of childhood periodic syndromes that are common precursors to migraine using new criteria of the International Classification of Headache Disorders (ICHD-II) / 소아과

PURPOSE: To evaluate the clinical features and characteristics of childhood periodic syndromes (CPS) in Korea using the new criteria of the International Classification of Headache Disorders (ICHD)-II. METHODS: The study was conducted at pediatric neurology clinics of five urban tertiary-care medical centers in Korea from January 2006 to December 2007. Patients (44 consecutive children and adolescents) were divided into three groups (cyclic vomiting syndrome [CVS], abdominal migraine [AM], and benign paroxysmal vertigo of childhood [BPVC]) by recurrent paroxysmal episodes of vomiting, abdominal pain, dizziness, and/or vertigo using the ICHD-II criteria and their characteristics were compared. RESULTS: Totally, 16 boys (36.4%) and 28 girls (63.6%) were examined (aged 4-18 yr), with 20 CVS (45.5%), 8 AM (18.2%), and 16 BPVC (36.4%) patients. The mean age at symptom onset was 6.3+/-3.6 yr, 8.5+/-2.7 yr, and 8.5+/-2.9 yr in the CVS, AM, and BPVC groups, respectively, showing that symptoms appeared earliest in the CVS group. The mean age at diagnosis was 8.0+/-3.4 yr, 10.5+/-2.6 yr, and 10.1+/-3.2 yr the CVS, AM, and BPVC groups, respectively. Of the 44 patients, 17 (38.6%) had a history of recurrent headaches and 11 (25.0%) showed typical symptoms of migraine headache, with 5 CVS (25.0%), 2 AM (25.0%), and 4 BPVC (25.0%) patients. Family history of migraine was found in 9 patients (20.4%): 4 in the CVS group (20.0%), 2 in the AM group (25.0%), and 3 in the BPVC group (18.8%). CONCLUSION: The significant time lag between the age at symptom onset and final diagnosis possibly indicates poor knowledge of CPS among pediatric practitioners, especially in Korea. A high index of suspicion may be the first step toward caring for these patients. Furthermore, a population-based longitudinal study is necessary to determine the incidence and natural course of these syndromes.

Clinical Experience with Levetiracetam Adjunctive Therapy for Pediatric Intractable Epilepsy

PURPOSE: This study was designed to evaluate the safety and the reduction in seizure frequency of levetiracetam adjunctive therapy for pediatric epilepsy. METHODS: We retrospectively reviewed the medical records of 29 pediatric intractable epilepsy patients(male 19 and female 10). They all experienced more than two seizures per month, and were not controlled by initial combined two or more conventional antiepileptic drugs. They were followed up for over at least 3 months after prescribed levetiracetam from October 2005 to December 2006 at Sanggyepaik Hospital. RESULTS: 13 patients(44.8%) out of 29 showed reduction in seizure frequency of more than 50%, and 7 patients(24.1%) more than 75%. Of 14 patients who had generalized epilepsies including 9 patients with Lennox?Gastaut syndrome, 2 patients with severe myolonic epilepsy in infancy, 1 patient with late?onset infantile spasm, and 2 patients with undetermined generalized epilepsy, 4 patients(28.6%) showed seizure reduction of more than 50% and 1 patient(7.1%) of more than 75%. Of 15 patients who had partial seizures, 9 patients(60.0%) showed seizure reduction of more than 50% and 6 patients(40.0%) of more than 75%. There were significant differences between generalized seizure and partial seizure in those with more than 75% seizure reduction rate(Fisher's exact test, P=0.03). The mean maintenance dosage of drug was 34.8 mg/kg per day(5.7?71.4 mg/kg per day). The number of patients who showed adverse reactions was 9(31.0%) patients:increased seizure frequency in 4(13.8%) patients who discontinued levetiracetam, sedation in 3 patients and increased secretion and loss of appetite in one patient respectively in a descending order of of frequency. CONCLUSION: Levetiracetam is believed to be an effective, and safe anticonvulsant when used as an adjunctive therapy for various refractory childhood epilepsies.

Multimodal Management of Lennox-Gastaut Syndrome

PURPOSE: Lennox-Gastaut syndrome(LGS) is a childhood epileptic encephalopathy characterized by an electroclinical triad of generalized slow spike and wave activities in the EEG, multiple types of epileptic seizures, and slow mental development. We have attempted to evaluate the efficacy of diverse treatment modalities including epilepsy surgery, ketogenic diet and vagus nerve stimulation as well as new antiepileptic drugs(AEDs) in patients with LGS. METHODS: We retrospectively reviewed the medical records of 79 patients who were managed as Lennox-Gastaut syndrome at Asan Medical Center from April 1993 to March 2006. Their clinical characteristics, EEG, brain MRI findings, and applied treatment modalities were analyzed. Pre- and post-treatment seizure counts were obtained from monthly diary annotations by their families or caregivers. RESULTS: Among these 79 patients, 51 were males. The mean age of their first seizure was 1.9 years and the mean age of their first clinic visit was 4.6 years. Seizure freedom longer than one year was noted in 23 of the 79 patients(29.1%; AED in only 10 of 78 patients, three of 22 patients on a ketogenic diet, seven of 28 patients callosotomy, one patient hemispherectomy, and 2 patients cortical lesionectomy). Measurable improvement (>50%) was noted in 67 of the 79 patients(84.8%) by multimodal treatments. CONCLUSION: Lennox-Gastaut syndrome is recognized as intractable epilepsy. However, patient-designed multi-modality treatment can usually be very helpful for most of these patients.