A. Ko, J. Kong, F. Samadov, Akmal Mukhamedov, Young Mi Kim, Yun-Jin Lee, S. Nam
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.
{"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":null,"pages":null},"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}
V. Lee, T. Khoo, Che Zubaidah Che Daud, K. A. Latif
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
{"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":null,"pages":null},"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}
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
儿童期常见的阵发性、行为性、不自主发作，在6至48个月的健康儿童中发生率高达4.6%。它们通常是由情绪刺激引发的，比如愤怒、沮丧、恐惧或受伤。自主神经系统和副交感心肺反射的失调或不稳定可能是BHS的可能证据，但其确切的致病机制尚不完全清楚[2,3]。bhs可分为紫绀或苍白;这些症状持续大约10到60秒，大多会自发消退。bhs的严重并发症是罕见的，但猝死，心脏骤停时间延长和癫痫持续状态的病例已被报道。缺铁性贫血(IDA)被认为是近50%儿童BHS的危险因素。口服补铁在减少屏气发作频率和严重程度方面的有效性是众所周知的[5,6]。在这里，我们描述了一个9个月大的女孩谁经常经历bhs和接受静脉(IV)补铁治疗她的缺氧反复发作。一个9个月大的发育正常的女孩因癫痫样事件来到急诊室(ER)。该事件的特征是剧烈的哭泣，之后她停止哭泣并出现口周紫绀和强直性四肢僵硬并抽搐几分钟。三周前，她有过类似的症状;她在哭泣后停止了呼吸，然后在不知不觉中表现出四肢短暂的抽搐运动和眼球向上倾斜。她是通过自然阴道分娩足月出生的，没有任何围产期问题。她的出生体重是3360克，是母乳喂养的。没有癫痫家族史或类似事件。经检查，生命体征正常，无局灶性神经功能缺损。脑磁共振、脑电图结果正常。除了血红蛋白(Hb)水平为9.4 g/dL和平均红细胞体积为62.4 f l外，实验室检查结果无显著差异。患者被诊断为BHS，并开始经验性口服铁补充剂(5 mg/kg/天的元素铁)。一个月后，她再次来到急诊室，因为她在跌倒时撞到了头部，出现了明确的缺氧发作。在她的过度长时间哭泣停止后，她变成紫绀型伴去饱和，并出现全身性强直-阵挛(GTC)癫痫发作2分钟，pissn 2635-909X•eISSN 2635-9103 Ann Child Neurol [Epub ahead of print] https://doi.org/10.26815/acn.2022.00010
{"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":null,"pages":null},"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}
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.
{"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":null,"pages":null},"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}
D. Nagabushana, Supraja Chandrasekhar, G. Venkatesha
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
轻微的头部创伤是非常罕见的。我们报告了一名幼儿，他表现为右侧偏瘫，并在左侧基底节发生急性梗死。梗死与相应的豆纹动脉（LSA）矿化有关，在大脑计算机断层扫描（CT）上显示为点状钙化。这种情况代表了儿童中风的良性原因，称为矿化血管病[1]。一名先前健康的30个月大的男性儿童在从床上摔下30分钟后出现右上肢和下肢活动不足，口腔角度向左侧偏移。检查显示，右上肢和下肢的反重力运动较差，右侧肌肉张力下降，肌肉拉伸反射下降，右侧上运动神经元面神经麻痹。脑磁共振成像（MRI）显示左豆状核和内囊急性梗死，液体衰减反转恢复序列中存在扩散限制和高信号。核磁共振血管造影没有发现任何血管闭塞。脑CT显示双侧基底节在LSA的分布中有钙化（图1）。pISSN 2635-909X•eISSN 2635-9103 Ann Child Neurol[Epub出版前]https://doi.org/10.26815/acn.2021.00521
{"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":null,"pages":null},"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}
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
以在长骨的玄学和骨干处生长多个骨软骨瘤为特征。MHE以常染色体显性方式遗传。MHE的两个致病基因，exostosin糖基转移酶1 (EXT1)和EXT2，被组织成一个复合物，都是合成硫酸肝素(HS)所必需的。任何EXT基因的杂合突变都会导致HS缺乏症[2]。已知EXT1和EXT2通过参与HS生物合成链延伸步骤的糖基转移酶引起外露，并且HS影响骨骼发生，骨骼生长和形态发生的重要过程[3]。先前的一项研究报道，包括涉及EXT1的8q24缺失突变的患者有时会表现出自闭症特征[4]。HS调节多种细胞表面信号事件，最近的研究越来越多地揭示了它在神经系统发育中的作用。在这里，我们描述了一个患有微缺失(8q24.11q24.13 [118,625,768-124,169,620] ×1)的男孩的病例，他表现为自闭症，智力残疾和MHE。家长签署知情同意书并同意匿名使用pISSN 2635-909X•eISSN 2635-9103 Ann Child Neurol [Epub预印]https://doi.org/10.26815/acn.2021.00451
{"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":null,"pages":null},"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}
Soo Jin Baik, Tae Hwan Han, S. Jung, Ji-In Bang, K. Chae
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
通讯作者：Kyu Young Chae，医学博士，CHA Bundang医学中心，CHA大学，59 Yatap ro，Bundanggu，Seongnam 13496，Korea电话：+82-31-780-5230传真：+82-31-7 80-5239电子邮件：danielchae21@gmail.com一例以四肢无力为表现的原发性干燥综合征青少年病例Soo Jin Baik，医学博士，Tae Hwan Han，医学博士、Sang Youn Jung，医学博士和Ji In-Bang，医学博士Kyu Young-Chae，医学博士儿科，CHA Bundang医学中心，CHA大学，Seongnam，韩国儿科，CHA-Ilsan医学中心，韩国城南大学，韩国核医学部，韩国城南大学CHA Bundang医学中心致编辑的信
{"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":null,"pages":null},"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}
J. Han, Seungbok Lee, Hyewon Woo, S. Kim, Hunmin Kim, B. Lim, H. Hwang, Jieun Choi, Ki Joong Kim, J. Chae
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.
{"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":null,"pages":null},"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}
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
皮肤病，以类似鱼鳞的大的深褐色鳞片为特征。它主要从伸肌表面和躯干侧面对称开始，分布广泛，然后在整个儿童时期消失。大多数XLI病例是由类固醇硫酸酯酶（STS）基因突变引起的（男性在线孟德尔遗传[OMIM]*300747），该基因位于X染色体Xp22.3的短臂上，编码STS酶[1]。大多数XLI患者（90%）在STS内或包括STS在内有大量缺失[2]。这些患者表现出各种临床症状以及皮肤病变。Baek和Aypar[3]报道了一名5岁女孩，她患有轻度自闭症、注意力缺陷多动障碍（ADHD）和干燥、鳞状皮肤。染色体微阵列（CMA）显示大量缺失，包括STS和神经胶质蛋白4，OMIM*300427（NLGN4），与多动症和自闭症有关[3]。在这里，我们报告了三名患有XLI和发育迟缓的儿童。我们用单核苷酸多态性（SNP）阵列通过CMA证实了XLI和大缺失的存在，并研究了其他相关的临床症状。三名患者的临床特征pISSN 2635-909X•eISSN 2635-9103 Ann Child Neurol 2021；29（4）：186-189https://doi.org/10.26815/acn.2021.00402
{"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":null,"pages":null},"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}
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