Annals of Child Neurology最新文献

{"title":"Significance of Polyspikes on Electroencephalography in Children with Focal Epilepsy","authors":"A. Ko, J. Kong, F. Samadov, Akmal Mukhamedov, Young Mi Kim, Yun-Jin Lee, S. Nam","doi":"10.26815/acn.2022.00024","DOIUrl":"https://doi.org/10.26815/acn.2022.00024","url":null,"abstract":"Purpose: Epilepsy is one of the most common neurological disorders in both adults and children. After detailed history-taking, electroencephalography (EEG) is the most important investigation in the evaluation of epilepsy patients. Polyspikes, defined as a sequence of two or more spikes, are among the findings that can be seen on EEGs of epilepsy patients, but the literature on their significance in focal epilepsy patients is scarce. Therefore, in the current study, we investigated the significance of polyspikes on EEG in childhood focal epilepsy. Methods: A retrospective analysis was conducted of data from children who were diagnosed with focal epilepsy and received anti-seizure medications at Pusan National University Children’s Hospital. Results: Among the 1,125 children included in this study, 468 (41.6%) showed interictal polyspikes on their EEGs. In the multivariate analysis, only the presence of brain magnetic resonance imaging (MRI) abnormalities was significantly associated with the presence of interictal polyspikes on EEGs. Among patients with brain MRI abnormalities, localized polyspikes were significantly associated with focal cortical dysplasia, while multifocal polyspikes were significantly associated with perinatal insults (hypoxic-ischemic encephalopathy and destructive encephalomalacia). Conclusion: Focal epilepsy patients with interictal polyspikes were more likely to have a structural etiology. Furthermore, patients with localized polyspikes were more likely to have focal cortical dysplasia as the structural etiology, while patients with multifocal polyspikes were more likely to have perinatal insults as the structural etiology. This study demonstrates that focal polyspikes can be used as markers of the possible presence of a structural etiology in routine practice.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41497650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of the COVID-19 Pandemic on Headache in Pediatric Migraine Patients at a Single Tertiary Center","authors":"T. Lim, J. Kong, S. Nam, S. Byun, Sungsu Jung, G. Yeon, Yun-Jin Lee","doi":"10.26815/acn.2022.00038","DOIUrl":"https://doi.org/10.26815/acn.2022.00038","url":null,"abstract":"Purpose: The aim of this study was to evaluate the impact of the coronavirus disease 2019 (COVID-19) pandemic on children and adolescents with migraine. Method(s): This longitudinal cohort study enrolled children and adolescents with migraine from the Department of Pediatric Neurology at our hospital from January 2017 to June 2021. Self-re-ported data from individual headache diaries were used. The patients were questioned about their headache frequency and intensity, stress, physical activity, changes in mood and sleep, and their school and home lives during the COVID-19 pandemic. The Pediatric Migraine Disability Assessment (Ped-MIDAS) scoring system was applied to assess headache-related disability. Result(s): In total, 325 pediatric migraine patients (mean age 12.8+/-5.6 years, 62.5% female) were included in this study. The average monthly frequency of migraine headaches was 2.17+/-1.32 and 4.62+/-3.29 before and during the COVID-19 pandemic (P<0.001), respectively. The Ped-MIDAS score was obtained for 207 patients both before and during the pandemic, and the total score slightly increased from 13.8 to 14.7 points (P=0.295). Sixty patients (18.5%) showed significantly worsening migraine headaches. Younger age (P=0.017), mood deterioration (P<0.001), sleep problems (P<0.001), increased acute medication use (P=0.010), and larger changes in the Ped-MIDAS score (P=0.002) were significantly associated with worsening headache in the logis-tic regression analysis. Conclusion(s): Headache attacks in children and adolescents with migraine were more frequent during the COVID-19 pandemic than before it. Worsening headaches could be independently at-tributed to younger age, mood deterioration, and poor sleep during the COVID-19 pandemic.Copyright © 2022 Korean Child Neurology Society.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45734759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric-Onset CLIPPERS: A Case Report and Literature Review","authors":"V. Lee, T. Khoo, Che Zubaidah Che Daud, K. A. Latif","doi":"10.26815/acn.2022.00017","DOIUrl":"https://doi.org/10.26815/acn.2022.00017","url":null,"abstract":"a broad-based gait with past pointing, dysdiadochokinesia, and in-tentional tremors bilaterally. There was no oph-thalmoplegia, fundoscopy showed no optic neu-ritis or papilledema, all other cranial nerves were intact, and the tone, power, and reflexes of both upper and lower limbs were normal. There was no hepatosplenomegaly or lymphadenopathy, and the findings of other systemic examinations were normal. Investigations were conducted with the aim of ruling out infection, posterior circulation stroke, demyelination","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49390876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intravenous Ferric Carboxymaltose as Rescue Therapy in Severe Breath Holding Spells: A Case Report and Literature Review","authors":"Hee Jeong Yun, W. Kim, Jon Soo Kim","doi":"10.26815/acn.2022.00010","DOIUrl":"https://doi.org/10.26815/acn.2022.00010","url":null,"abstract":"paroxysmal, behavioral, involuntary episodes frequently seen in childhood, occurring in up to 4.6% of otherwise healthy children aged 6 to 48 months [1]. They are usually triggered by emotional stimuli such as anger, frustration, fear, or injury. Dysregulation or instability of the autonomic nervous system and parasympathetic cardio-respiratory reflexes may represent possible evidence of BHS, but its precise pathogenic mechanisms remain incompletely understood [2,3]. BHSs may be categorized as cyanotic or pallid; the episodes last about 10 to 60 seconds and mostly spontaneously resolve [2]. Serious complications of BHSs are rare, but cases of sudden death, prolonged asystole, and status epilepticus have been reported [4]. Iron deficiency anemia (IDA) has been considered a risk factor for BHS in nearly 50% of children [1]. The effectiveness of oral iron supplementation in reducing the frequency and severity of breath-holding attacks is well-known [5,6]. Here, we describe the case of a 9-month-old girl who frequently experienced BHSs and received intravenous (IV) iron supplementation for her anoxic repetitive seizure attacks. A 9-month-old developmentally normal girl visited the emergency room (ER) with a seizure-like event. The event was characterized by vigorous crying, after which she stopped crying and developed peri-oral cyanosis and tonic stiffening of the limbs and jerking for several minutes. Three weeks previously, she had a similar episode; she stopped being able to breathe after crying and then showed brief convulsive movements of the limbs and upward eyeball deviation without being aware of it. She was born at term via spontaneous vaginal delivery without any perinatal problems. Her birth weight was 3,360 g and she was breastfed. There was no family history of epilepsy or similar events. On examination, vital signs were normal and she had no focal neurologic deficits. Brain magnetic resonance imaging and electroencephalography results were normal. The laboratory findings were unremarkable, except for a hemoglobin (Hb) level of 9.4 g/dL and a mean corpuscular volume of 62.4 f L. The patient was diagnosed with BHS and started on empirical oral iron supplements (5 mg/kg/day of elemental iron). One month later, she re-visited the ER with definite anoxic seizures after having bumped her head while falling. After the cessation of her excessive prolonged crying, she became cyanotic with desaturation and developed generalized tonic-clonic (GTC) seizures for 2 minutes withpISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol [Epub ahead of print] https://doi.org/10.26815/acn.2022.00010","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69138141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a Risk Predictive Scoring System for Epilepsy in Infants with Paroxysmal Motor Events: A Retrospective Single-Center Study","authors":"H. Kim, H. Jang, Hyunji Ahn, M. Yum, T. Ko","doi":"10.26815/acn.2021.00514","DOIUrl":"https://doi.org/10.26815/acn.2021.00514","url":null,"abstract":"Purpose: Paroxysmal motor events are common clinical symptoms in infants visiting pediatric neurology clinics. Due to the heterogeneous clinical symptoms and the difficulty of interpreting electroencephalography (EEG) in infants, differentiating paroxysmal motor events from epileptic events is challenging. This study aimed to investigate the risk factors for the diagnosis of epilepsy in infants and to develop a scoring system that predicts the risk of epilepsy. Methods: We retrospectively analyzed data from patients who presented with paroxysmal motor events in infancy between January 2008 and December 2009 at Asan Medical Center. Electronic medical records were reviewed for patients’ demographics, medical history, clinical characteristics associated with specific situations, and motor symptoms. Laboratory findings, EEG, and brain magnetic resonance imaging were also reviewed. Results: In total, 111 infants with paroxysmal motor events were enrolled. Non-epileptic paroxysmal motor events (NEPMs) were associated with specific situations ( P <0.001). Patients with epilepsy were likely to have focal motor symptoms ( P =0.08), a medical history of a neurologic disorder, and/or a family history of epilepsy ( P <0.05). A risk scoring system was developed based on these risk factors; using this system, infants with 2 or more points could be diagnosed with epilepsy with 61.76% sensitivity and 88.31% specificity. Conclusion: Infants with paroxysmal motor events were more likely to be diagnosed with NEPMs than with epilepsy. An absence of specific situations for paroxysmal events, focal motor seizures, and a medical history of another illness were associated with the final diagnosis of epilepsy.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45267632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mineralizing Angiopathy: An Uncommon Cause of Pediatric Stroke with Good Outcomes","authors":"D. Nagabushana, Supraja Chandrasekhar, G. Venkatesha","doi":"10.26815/acn.2021.00521","DOIUrl":"https://doi.org/10.26815/acn.2021.00521","url":null,"abstract":"ing trivial head trauma is very rare. We report a toddler who presented with right hemiparesis and had an acute infarct in the left basal ganglia. The infarct occurred in association with mineralization of the corresponding lenticulostriate arteries (LSAs), visualized as punctate calcifications on computed tomography (CT) of the brain. This condition represents a benign cause of pediatric stroke, known as mineralizing angiopathy [1]. A previously healthy, 30-month-old male child presented with paucity of movements in the right upper and lower limbs, as well as deviation of the mouth angle towards the left side, noted after a time lag of 30 minutes following a fall from a bed. Examination revealed poor anti-gravity movements of the right upper and lower limbs with decreased tone and depressed muscle stretch reflexes on the right side, along with rightside upper motor neuron facial nerve palsy. Brain magnetic resonance imaging (MRI) showed an acute infarct in the left lentiform nucleus and internal capsule with diffusion restriction and hyperintensity in the fluid attenuated inversion recovery sequence. An MRI angiogram did not reveal any occlusion of the vessels. Brain CT revealed calcifications in the bilateral basal ganglia in the distribution of the LSA (Fig. 1). A pISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol [Epub ahead of print] https://doi.org/10.26815/acn.2021.00521","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43012614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An 8q24.11q24.13 Microdeletion Encompassing EXT1 in a Boy with Autistic Spectrum Disorder, Intellectual Disability, and Multiple Hereditary Exostoses","authors":"Min Jeong Kim, Y. Lee, S. Nam, Young Mi Kim","doi":"10.26815/acn.2021.00451","DOIUrl":"https://doi.org/10.26815/acn.2021.00451","url":null,"abstract":"der characterized by the growth of multiple osteochondromas in the metaphyses and diaphyses of long bones [1]. MHE is inherited in an autosomal dominant manner. The two causative genes of MHE, exostosin glycosyltransferase 1 (EXT1) and EXT2, are organized as a complex and are both required for heparan sulfate (HS) synthesis. Heterozygous mutations of either EXT gene result in HS deficiency [2]. EXT1 and EXT2 are known to cause exostoses by glycosyltransferases that are involved in the chain elongation step of HS biosynthesis, and HS influences important processes in skeletogenesis, skeletal growth, and morphogenesis [3]. A previous study reported that patients with deletion mutations including 8q24 involving EXT1 sometimes presented with autistic features [4]. HS regulates diverse cell-surface signaling events, and recent research has increasingly uncovered its roles in the development of the nervous system. Here, we describe the case of a boy with a microdeletion (8q24.11q24.13 [118,625,768-124,169,620] ×1), who presented with autism, intellectual disability, and MHE. the parents signed informed consent and approved the anonymous use of pISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol [Epub ahead of print] https://doi.org/10.26815/acn.2021.00451","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41913840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Juvenile Case of Primary Sjögren Syndrome Presenting as Limb Weakness","authors":"Soo Jin Baik, Tae Hwan Han, S. Jung, Ji-In Bang, K. Chae","doi":"10.26815/acn.2021.00500","DOIUrl":"https://doi.org/10.26815/acn.2021.00500","url":null,"abstract":"Corresponding author: Kyu Young Chae, MD Department of Pediatrics, CHA Bundang Medical Center, CHA University, 59 Yatap-ro, Bundanggu, Seongnam 13496, Korea Tel: +82-31-780-5230 Fax: +82-31-780-5239 E-mail: danielchae21@gmail.com A Juvenile Case of Primary Sjögren Syndrome Presenting as Limb Weakness Soo Jin Baik, MD, Tae Hwan Han, MD, Sang Youn Jung, MD, Ji-In Bang, MD, Kyu Young Chae, MD Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea Department of Pediatrics, CHA Ilsan Medical Center, CHA University, Goyang, Korea Department of Rheumatology, CHA Bundang Medical Center, CHA University, Seongnam, Korea Department of Nuclear Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea Letter to the editor","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45820668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations","authors":"J. Han, Seungbok Lee, Hyewon Woo, S. Kim, Hunmin Kim, B. Lim, H. Hwang, Jieun Choi, Ki Joong Kim, J. Chae","doi":"10.26815/acn.2021.00423","DOIUrl":"https://doi.org/10.26815/acn.2021.00423","url":null,"abstract":"Purpose: The purpose of this study was to expand our understanding of phenotypic and genetic variation in Allan-Herndon-Dudley syndrome (AHDS), which is a rare X-linked mental retardation syndrome characterized by hypotonia, generalized spasticity, and moderate-to-severe psychomotor retardation. AHDS is caused by a mutation of solute carrier family 16 member 2 (SLC16A2), which encodes monocarboxylate transporter 8 (MCT8), the transporter of triiodothyronine (T3) into neurons. Methods: We enrolled nine patients with AHDS from unrelated families, except for two patients who were cousins, through a retrospective chart review. Clinical features, brain imaging, electroencephalograms, thyroid hormone profiles, and genetic data were reviewed retrospectively and compared with previously reported cases. Results: We found three novel and five previously reported pathogenic variants in nine patients from eight families. All patients presented with hypotonia, spasticity, severe developmental delay, and elevated serum T3 levels. Cataplexy, which is a previously unreported phenotype, was found in two patients with the same mutation. In our cohort, seizures were uncommon (n=1) but intractable. Conclusion: This study broadens the known phenotypic variations of AHDS, ranging from relatively mild global developmental delay to a severe form of encephalopathy with hypotonia, spasticity, and no acquisition of independent sitting. The syndromic classification or genetic etiology of global developmental delay is extremely heterogeneous; therefore, early clinical suspicion is challenging for clinicians. However, severe mental retardation with hypotonia, spasticity, and elevated serum T3 levels in male patients is a highly suspicious clinical clue for the early diagnosis of AHDS.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47036326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developmental Delay in Children with X-Linked Ichthyosis: A Case Series","authors":"Su Jeong Park, K. Park, M. Bae, Young Mi Kim","doi":"10.26815/acn.2021.00402","DOIUrl":"https://doi.org/10.26815/acn.2021.00402","url":null,"abstract":"dermatologic disorder characterized by large, dark brown scales similar to fish scales. It starts primarily on the extensor surfaces and the side of the trunk symmetrically, becomes widely distributed, and then disappears throughout childhood. Most cases of XLI are caused by mutations in the steroid sulfatase (STS) gene (online Mendelian inheritance in men [OMIM] * 300747), which is located on the short arm of the X chromosome at Xp22.3 and encodes the STS enzyme [1]. Most XLI patients (90%) have large deletions within or including STS [2]. These patients display various clinical symptoms, as well as skin lesions. Baek and Aypar [3] reported a 5-year-old girl who presented with mild autism, attention-deficit hyperactivity disorder (ADHD), and dry, scaly skin on the body. A chromosomal microarray (CMA) revealed a large deletion, including STS and neuroligin 4, OMIM*300427 (NLGN4), associated with ADHD and autism [3]. Here, we report three children with XLI and developmental delay. We confirmed XLI and the presence of a large deletion through CMA with a single-nucleotide polymorphism (SNP) array and also investigated other associated clinical symptoms. The clinical characteristics of the three patients pISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol 2021;29(4):186-189 https://doi.org/10.26815/acn.2021.00402","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47657978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}