A 9-year-old boy with no relevant previous medical history was admitted to our clinic following 9 days of persistent fever and headache, followed by generalized motor weakness and an altered state of mentality. The patient was initially evalu-ated by a primary care physician and treated with antibiotics, although no improvement was observed. On his first visit to our hospital, he displayed a confused mental state, signs of meninge-al irritation, and decreased motor power (grades I–II) in all extremities on neurologic examinations. Laboratory tests, including thyroid func-tion tests, level of immunoglobulin, and comple-ments, were unremarkable. Brain and spine magnetic resonance imaging (MRI) showed T2 flu-id-attenuated inversion recovery (FLAIR) high signal changes in the basal ganglia, thalami, cor-pus callosum, brainstem, cerebellum, and entire spinal cord with leptomeningeal enhancement (Fig. 1A).
{"title":"A Rare Case of Anti-Ma2 Antibody-Mediated Autoimmune Encephalomyelitis in Childhood","authors":"Han-Sol Kim, M. Yum, Min‐Jee Kim, T. Ko","doi":"10.26815/acn.2022.00150","DOIUrl":"https://doi.org/10.26815/acn.2022.00150","url":null,"abstract":"A 9-year-old boy with no relevant previous medical history was admitted to our clinic following 9 days of persistent fever and headache, followed by generalized motor weakness and an altered state of mentality. The patient was initially evalu-ated by a primary care physician and treated with antibiotics, although no improvement was observed. On his first visit to our hospital, he displayed a confused mental state, signs of meninge-al irritation, and decreased motor power (grades I–II) in all extremities on neurologic examinations. Laboratory tests, including thyroid func-tion tests, level of immunoglobulin, and comple-ments, were unremarkable. Brain and spine magnetic resonance imaging (MRI) showed T2 flu-id-attenuated inversion recovery (FLAIR) high signal changes in the basal ganglia, thalami, cor-pus callosum, brainstem, cerebellum, and entire spinal cord with leptomeningeal enhancement (Fig. 1A).","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45892006","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}
H. Kang, Dong-Seok Kim, Se Hoon Kim, Jeong Ho Lee, A. Ko, S. H. Kim, Joon Soo Lee, H. Kim, Hoon-Chul Kang
Purpose: This study presents the characteristics of patients with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) with SLC35A2 somatic variants in the brain who underwent epilepsy surgery and showed clinical improvement in seizures. Methods: We collected 10 patients with SLC35A2 somatic mutations in the brain who underwent surgery to treat drug-resistant epilepsy at Severance Children’s Hospital from 2014 to 2019 and retrospectively reviewed their genetic profiles, neuropathologic results, clinical features, pre-operative evaluations, and post-operative outcomes. Results: Six of the 10 patients with SCL35A2 somatic mutations in the brain had Lennox Gastaut syndrome (LGS) evolving from infantile spasms (IS), three had LGS, and one had IS. The median value of variant allele frequencies (VAFs) was 5.7% (1.7% to 5.8%; range, 1.4% to 22.9%). Nonsense mutations were the most common (50%), followed by missense mutations (40%) and a splicing site mutation (10%). Eight patients (80%) had good post-operative outcomes, with freedom from disabling seizures in five (Engel class I) and rare disabling seizures in three (Engel class II). Four of the eight patients who could be assessed for social quotient (SQ) after surgery showed SQ improvements by 12.2±6.4. Although all patients were finally diagnosed with MOGHE, seven (70%) were initially diagnosed with gliosis, two with mild malformation of cortical development, and one with no abnormality. Conclusion: All patients with SCL35A2 brain somatic mutations, even with low VAFs, had refractory epilepsy such as LGS or IS, and were finally diagnosed with MOGHE. This report is the first in Korea to our knowledge.
{"title":"Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE)","authors":"H. Kang, Dong-Seok Kim, Se Hoon Kim, Jeong Ho Lee, A. Ko, S. H. Kim, Joon Soo Lee, H. Kim, Hoon-Chul Kang","doi":"10.26815/acn.2022.00073","DOIUrl":"https://doi.org/10.26815/acn.2022.00073","url":null,"abstract":"Purpose: This study presents the characteristics of patients with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) with SLC35A2 somatic variants in the brain who underwent epilepsy surgery and showed clinical improvement in seizures. Methods: We collected 10 patients with SLC35A2 somatic mutations in the brain who underwent surgery to treat drug-resistant epilepsy at Severance Children’s Hospital from 2014 to 2019 and retrospectively reviewed their genetic profiles, neuropathologic results, clinical features, pre-operative evaluations, and post-operative outcomes. Results: Six of the 10 patients with SCL35A2 somatic mutations in the brain had Lennox Gastaut syndrome (LGS) evolving from infantile spasms (IS), three had LGS, and one had IS. The median value of variant allele frequencies (VAFs) was 5.7% (1.7% to 5.8%; range, 1.4% to 22.9%). Nonsense mutations were the most common (50%), followed by missense mutations (40%) and a splicing site mutation (10%). Eight patients (80%) had good post-operative outcomes, with freedom from disabling seizures in five (Engel class I) and rare disabling seizures in three (Engel class II). Four of the eight patients who could be assessed for social quotient (SQ) after surgery showed SQ improvements by 12.2±6.4. Although all patients were finally diagnosed with MOGHE, seven (70%) were initially diagnosed with gliosis, two with mild malformation of cortical development, and one with no abnormality. Conclusion: All patients with SCL35A2 brain somatic mutations, even with low VAFs, had refractory epilepsy such as LGS or IS, and were finally diagnosed with MOGHE. This report is the first in Korea to our knowledge.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48637067","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}
Tae-Chul Han, K. Chae, E. Yoo, Mo Kyung Jung, E. K. Ha, M. Han, H. Jee, S. Rhie
Purpose: Teenagers’ sleep patterns show physiological delays influenced by sexual maturation and other external time-related factors. However, Korean adolescents show differences in the onset of pubertal development and have shorter sleep durations than other adolescents world-wide. Therefore, we assessed sleep patterns and sexual maturation in Korean early adolescents to evaluate changes in sleep patterns in relation to sexual maturation in early adolescents with sleep deprivation. Methods: From March to August 2017, we surveyed children aged 10 to 12 years in Seongnam (Seongnam Atopy Project). We evaluated items related to sleep and sexual maturation, assessed sleep duration and sleepiness scale scores, and analyzed the relationships of sleep parameters with sex, height, weight, and sexual maturation rating (SMR). Results: In total, 620 children were included. Sleep duration was 8.63±0.81 hours in boys and 8.40±0.98 hours in girls. Sleep started from PM 11:00±AM 0:47 in boys and PM 11:13±AM 1:06 in girls, and ended at AM 7:38±AM 0:27 in boys and AM 7:34±AM 0:27 in girls. After adjusting for sex and standardized body mass index, bedtime was delayed as the SMR increased (mean delay for each rating increase, 0.251 hours; P =0.001; 95% confidence interval [CI], 0.105 to 0.397). SMR did not influence the wake-up time, although sleep duration decreased as the SMR increased (mean decrease for each rating increase, 0.258 hours; P =0.001; 95% CI, –0.403 to –0.114). The sleepiness scale scores showed no relationship with SMR. Conclusion: Sleep patterns, especially sleep duration and bedtimes, show changes with sexual maturation in adolescents, who are vulnerable to sleep deprivation.
{"title":"Changes in Sleep Patterns in Korean Early Adolescents During Sexual Maturation","authors":"Tae-Chul Han, K. Chae, E. Yoo, Mo Kyung Jung, E. K. Ha, M. Han, H. Jee, S. Rhie","doi":"10.26815/acn.2022.00080","DOIUrl":"https://doi.org/10.26815/acn.2022.00080","url":null,"abstract":"Purpose: Teenagers’ sleep patterns show physiological delays influenced by sexual maturation and other external time-related factors. However, Korean adolescents show differences in the onset of pubertal development and have shorter sleep durations than other adolescents world-wide. Therefore, we assessed sleep patterns and sexual maturation in Korean early adolescents to evaluate changes in sleep patterns in relation to sexual maturation in early adolescents with sleep deprivation. Methods: From March to August 2017, we surveyed children aged 10 to 12 years in Seongnam (Seongnam Atopy Project). We evaluated items related to sleep and sexual maturation, assessed sleep duration and sleepiness scale scores, and analyzed the relationships of sleep parameters with sex, height, weight, and sexual maturation rating (SMR). Results: In total, 620 children were included. Sleep duration was 8.63±0.81 hours in boys and 8.40±0.98 hours in girls. Sleep started from PM 11:00±AM 0:47 in boys and PM 11:13±AM 1:06 in girls, and ended at AM 7:38±AM 0:27 in boys and AM 7:34±AM 0:27 in girls. After adjusting for sex and standardized body mass index, bedtime was delayed as the SMR increased (mean delay for each rating increase, 0.251 hours; P =0.001; 95% confidence interval [CI], 0.105 to 0.397). SMR did not influence the wake-up time, although sleep duration decreased as the SMR increased (mean decrease for each rating increase, 0.258 hours; P =0.001; 95% CI, –0.403 to –0.114). The sleepiness scale scores showed no relationship with SMR. Conclusion: Sleep patterns, especially sleep duration and bedtimes, show changes with sexual maturation in adolescents, who are vulnerable to sleep deprivation.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48736456","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: Wieacker-Wolff syndrome is a rare disease caused by X-linked zinc finger C4H2-type containing ( ZC4H2 ) mutations. It is characterized by arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), including impairment of central and peripheral synaptic plasticity. Currently, it is named “ ZC4H2 -associated rare disease” (ZARD) due to various clinical features other than AMC and ID. Here, we report six cases of ZARD, and describe their variable clinical phenotypes. Methods: We analyzed the detailed clinical features and genotypes of six patients diagnosed by whole-exome sequencing or a chromosomal microarray. Results: In the four male patients, hemizygous mutations were found (c. 245A>C in two patients, c. 610C>A in one patient, and c.637C>T in one patient), and all variants were identified by Sanger sequencing. In the female patients, a 1.16-Mb deletion in Xq11.2, including ZC4H2 , was identified by chromosomal microarray. All patients had heterogeneous phenotypes with variable sever-ities. Motor delay was observed in all patients, four of whom could not walk independently. Other neurological features included ID, spasticity, and seizures. The craniofacial features included microcephaly, low-set ears, strabismus, ptosis, ocular motor apraxia, a U-shaped upper lip vermilion, short neck, and microretrognathia. The most common musculoskeletal symptoms were multiple arthrogryposis: metacarpophalangeal joint contracture, clubfoot, distal muscle weakness, Achilles tendon contracture, knee flexion contracture, camptodactyly, elbow flexion contracture, and hip subluxation. Conclusion: The ZARD phenotypes were prominent in male patients, and female patients with loss of function showed more severe symptoms. Further research is needed to clarify phenotypic variability in this rare disorder.
{"title":"Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients","authors":"J. Ahn, S. Kim, B. Lim, Ki-Joong Kim, J. Chae","doi":"10.26815/acn.2022.00129","DOIUrl":"https://doi.org/10.26815/acn.2022.00129","url":null,"abstract":"Purpose: Wieacker-Wolff syndrome is a rare disease caused by X-linked zinc finger C4H2-type containing ( ZC4H2 ) mutations. It is characterized by arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), including impairment of central and peripheral synaptic plasticity. Currently, it is named “ ZC4H2 -associated rare disease” (ZARD) due to various clinical features other than AMC and ID. Here, we report six cases of ZARD, and describe their variable clinical phenotypes. Methods: We analyzed the detailed clinical features and genotypes of six patients diagnosed by whole-exome sequencing or a chromosomal microarray. Results: In the four male patients, hemizygous mutations were found (c. 245A>C in two patients, c. 610C>A in one patient, and c.637C>T in one patient), and all variants were identified by Sanger sequencing. In the female patients, a 1.16-Mb deletion in Xq11.2, including ZC4H2 , was identified by chromosomal microarray. All patients had heterogeneous phenotypes with variable sever-ities. Motor delay was observed in all patients, four of whom could not walk independently. Other neurological features included ID, spasticity, and seizures. The craniofacial features included microcephaly, low-set ears, strabismus, ptosis, ocular motor apraxia, a U-shaped upper lip vermilion, short neck, and microretrognathia. The most common musculoskeletal symptoms were multiple arthrogryposis: metacarpophalangeal joint contracture, clubfoot, distal muscle weakness, Achilles tendon contracture, knee flexion contracture, camptodactyly, elbow flexion contracture, and hip subluxation. Conclusion: The ZARD phenotypes were prominent in male patients, and female patients with loss of function showed more severe symptoms. Further research is needed to clarify phenotypic variability in this rare disorder.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48951007","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}
Geum-ji Shin, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee
The case concerns a 14-year-old boy with no specific history at birth, but with global developmental delays during childhood. He was unable to walk independently at 12 months and to say “mama” and “dada” until 2 years of age. Brain magnetic resonance imaging findings revealed minimal corpus callosum hypoplasia, and genetic tests for Fragile X syndrome and Prader-Willi syndrome were negative. There was no seizure history, and no epileptogenic foci were observed on EEG. In the metabolic work-up, mitochondrial dysfunction was suspected from a urine organ-ic acid test due to the presence of elevated levels of citric acid cycle intermediates such as ethyl-malonic acid, succinate, and citrate, and no patho-logic findings were found on muscle biopsy. I was diagnosed re-ceived
{"title":"A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1","authors":"Geum-ji Shin, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee","doi":"10.26815/acn.2022.00045","DOIUrl":"https://doi.org/10.26815/acn.2022.00045","url":null,"abstract":"The case concerns a 14-year-old boy with no specific history at birth, but with global developmental delays during childhood. He was unable to walk independently at 12 months and to say “mama” and “dada” until 2 years of age. Brain magnetic resonance imaging findings revealed minimal corpus callosum hypoplasia, and genetic tests for Fragile X syndrome and Prader-Willi syndrome were negative. There was no seizure history, and no epileptogenic foci were observed on EEG. In the metabolic work-up, mitochondrial dysfunction was suspected from a urine organ-ic acid test due to the presence of elevated levels of citric acid cycle intermediates such as ethyl-malonic acid, succinate, and citrate, and no patho-logic findings were found on muscle biopsy. I was diagnosed re-ceived","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41306642","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: Children with epilepsy commonly have cognitive deficits; however, full-length neuropsychological testing is time- and resource-intensive. Therefore, we evaluated the feasibility of using the modified Mini-Mental Scale Examination (MMSE) and the Digit Letter Substitution Test (DLST) to screen children with epilepsy for cognitive deficits. Methods: This was a prospective case-control study comparing scores on the MMSE and the DLST in children with epilepsy with normal age-matched controls between 8 and 12 years of age. Results: In 35 cases and 36 controls, the cases had significantly lower ( P <0.05) mean scores than the controls. The correlation coefficient between the MMSE and DLST scores was 0.902 ( P <0.001). Children with developmental or speech delays and an epilepsy duration ≥5 years had lower scores than those without the corresponding risk factors. Conclusion: This study demonstrated significantly lower scores on the MMSE and DLST in children with epilepsy than in controls, as well as significantly lower scores in patients with developmental or speech delays and an epilepsy duration ≥5 years.
{"title":"Screening Children with Epilepsy for Cognitive Deficits Using the Modified Mini-Mental Scale Examination and the Digit Letter Substitution Test","authors":"Minakshi Balwani, G. Passi","doi":"10.26815/acn.2022.00059","DOIUrl":"https://doi.org/10.26815/acn.2022.00059","url":null,"abstract":"Purpose: Children with epilepsy commonly have cognitive deficits; however, full-length neuropsychological testing is time- and resource-intensive. Therefore, we evaluated the feasibility of using the modified Mini-Mental Scale Examination (MMSE) and the Digit Letter Substitution Test (DLST) to screen children with epilepsy for cognitive deficits. Methods: This was a prospective case-control study comparing scores on the MMSE and the DLST in children with epilepsy with normal age-matched controls between 8 and 12 years of age. Results: In 35 cases and 36 controls, the cases had significantly lower ( P <0.05) mean scores than the controls. The correlation coefficient between the MMSE and DLST scores was 0.902 ( P <0.001). Children with developmental or speech delays and an epilepsy duration ≥5 years had lower scores than those without the corresponding risk factors. Conclusion: This study demonstrated significantly lower scores on the MMSE and DLST in children with epilepsy than in controls, as well as significantly lower scores in patients with developmental or speech delays and an epilepsy duration ≥5 years.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47744481","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}
Cerebral venous thrombosis (CVT) in children is rare, with an incidence of 0.67 per 100,000 children, including newborns [1]. Its clinical manifestations may vary, including seizures, papilledema, headache, loss of consciousness, coma, and local neurological defects. The most com-mon manifestation in neonates is seizures, whereas headache predominates in non-neonatal age groups [2]. Hereditary thrombophilia causes 34% to 41% of CVT cases, within which antithrombin (AT) deficiency is rarely reported [3]. Here, we report a case of CVT, pulmonary thromboembolism (PTE), and upper-extremity deep vein thrombosis (DVT) associated with AT deficiency due to a novel missense mutation in SERPINC1 . A 16-year-old boy visited
{"title":"A SERPINC1 Mutation in a Patient with Cerebral Venous Thrombosis and Upper-Extremity Deep Vein Thrombosis","authors":"J. Byun, J. Hong","doi":"10.26815/acn.2022.00052","DOIUrl":"https://doi.org/10.26815/acn.2022.00052","url":null,"abstract":"Cerebral venous thrombosis (CVT) in children is rare, with an incidence of 0.67 per 100,000 children, including newborns [1]. Its clinical manifestations may vary, including seizures, papilledema, headache, loss of consciousness, coma, and local neurological defects. The most com-mon manifestation in neonates is seizures, whereas headache predominates in non-neonatal age groups [2]. Hereditary thrombophilia causes 34% to 41% of CVT cases, within which antithrombin (AT) deficiency is rarely reported [3]. Here, we report a case of CVT, pulmonary thromboembolism (PTE), and upper-extremity deep vein thrombosis (DVT) associated with AT deficiency due to a novel missense mutation in SERPINC1 . A 16-year-old boy visited","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46776014","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}
Anna Dominique Py Castro, M. A. A. Valencia, Jay Ron Padua
coronavirus (COVID-19) pandemic, there been reports of neurological manifestations of COVID-19, mostly in adults, albeit with a few cases described in children Several mechanisms have been proposed to explain how severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may in-duce neurological damage. There is emerging supporting neurotropism and neuroinvasion in COVID-19, with polymerase chain reaction (PCR) of the cerebrospinal fluid positive results 13% of and pediatric of the discusses a case of focal encephalitis presenting with seizure and altered mental status following fever and mild respiratory illness associated with COVID-19. A notable aspect of this case was the detection of SARS-CoV-2 RNA in the CSF, despite its absence in two consecu-tive nasopharyngeal swab specimens. Written in-formed consent for publication was obtained from the
{"title":"SARS-CoV-2 Neurotropism in a 12-Year-Old Filipino Boy with Focal Encephalitis","authors":"Anna Dominique Py Castro, M. A. A. Valencia, Jay Ron Padua","doi":"10.26815/acn.2022.00087","DOIUrl":"https://doi.org/10.26815/acn.2022.00087","url":null,"abstract":"coronavirus (COVID-19) pandemic, there been reports of neurological manifestations of COVID-19, mostly in adults, albeit with a few cases described in children Several mechanisms have been proposed to explain how severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may in-duce neurological damage. There is emerging supporting neurotropism and neuroinvasion in COVID-19, with polymerase chain reaction (PCR) of the cerebrospinal fluid positive results 13% of and pediatric of the discusses a case of focal encephalitis presenting with seizure and altered mental status following fever and mild respiratory illness associated with COVID-19. A notable aspect of this case was the detection of SARS-CoV-2 RNA in the CSF, despite its absence in two consecu-tive nasopharyngeal swab specimens. Written in-formed consent for publication was obtained from the","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45147312","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}
Hyewon Kim, Ji Kyoung Park, Jeong Eun Lee, K. Lee, B. Lee
Creatine is a metabolite that plays an important role in maintaining brain, heart, and muscle function [1]. It is synthesized in the kidney, liver, and pancreas by arginine glycine acyltransferase (AGAT, chromosomal location 15q15.1) and guanidinoacetic acid methyl transferase (GAMT, chromosomal location 19p13.3), and it is trans-ported to the brain and muscle by the creatine transporter SLC6A8 [1]. Creatine is metabo-lized by creatine kinase to produce adenosine tri-phosphate, which maintains organ function [1]. Cerebral creatine deficiency syndromes (CCDS) are classified into three types: two autosomal re-cessive types, in which mutations in the peptide sequence of either AGAT or
{"title":"X-Linked Cerebral Creatine Deficiency Syndrome with Prolonged QT Interval: A Case Report","authors":"Hyewon Kim, Ji Kyoung Park, Jeong Eun Lee, K. Lee, B. Lee","doi":"10.26815/acn.2022.00031","DOIUrl":"https://doi.org/10.26815/acn.2022.00031","url":null,"abstract":"Creatine is a metabolite that plays an important role in maintaining brain, heart, and muscle function [1]. It is synthesized in the kidney, liver, and pancreas by arginine glycine acyltransferase (AGAT, chromosomal location 15q15.1) and guanidinoacetic acid methyl transferase (GAMT, chromosomal location 19p13.3), and it is trans-ported to the brain and muscle by the creatine transporter SLC6A8 [1]. Creatine is metabo-lized by creatine kinase to produce adenosine tri-phosphate, which maintains organ function [1]. Cerebral creatine deficiency syndromes (CCDS) are classified into three types: two autosomal re-cessive types, in which mutations in the peptide sequence of either AGAT or","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48465846","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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