Annals of Child Neurology最新文献

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Two Cases of Norovirus Gastroenteritis Associated with Severe Neurologic Complications 诺如病毒性胃肠炎并发严重神经系统并发症2例
Annals of Child Neurology Pub Date : 2022-11-07 DOI: 10.26815/acn.2022.00262
Myung Ji Yoo, Dong Jun Ha, Dong Hyun Kim, Y. Kwon
{"title":"Two Cases of Norovirus Gastroenteritis Associated with Severe Neurologic Complications","authors":"Myung Ji Yoo, Dong Jun Ha, Dong Hyun Kim, Y. Kwon","doi":"10.26815/acn.2022.00262","DOIUrl":"https://doi.org/10.26815/acn.2022.00262","url":null,"abstract":"Norovirus, along with rotavirus, is a common virus that causes gastroenteritis in children [1]. Complications related to norovirus enteritis are rare, and the prognosis is good. However, various clinical features and poor prognoses have been reported in norovirus-associated encephalopathy [2,3]. Herein, we report two pediatric cases of norovirus infection with severe neurologic complications. A 7-year-old girl (patient A) visited the emergency room (ER) of a local hospital for diplopia, impaired vision, eye movement disorder, and mild neck stiffness that had lasted for 5 days. Days before developing ocular symptoms, she had abdominal pain, was diagnosed with enteritis, and took medications to alleviate the symptoms. Her mental status was alert, and the Glasgow Coma Scale score was 15. In a workup at a local hospital, brain magnetic resonance imaging (MRI) and angiography showed papilledema. She received mannitol for papilledema and intravenous methylprednisolone (1 mg/kg/ day) for 4 days for sixth cranial nerve palsy, followed by dexamethasone (0.5 mg/kg/day) for the next 6 days. During hospitalization, transient ataxia and bilateral periorbital pain were noted. Starting on hospitalization day 9, her symptoms improved, and a dexamethasone dose of 0.25 mg/kg/day was administered for 2 days. Subsequently, a reduced dexamethasone dose (0.125 mg/kg/day) was administered for the next 2 days. She was discharged on hospitalization day 13; the dexamethasone dose was tapered for 4 days and discontinued. However, on day 4 after discharge, her symptoms worsened again. Hence, she was transferred to our hospital. On transfer to our hospital, she had fixed dilated pupils, and her left eye had visual acuity of light perception and exhibited left gaze palsy (Fig. 1). Her right eye had a visual acuity of 0.04. On fundoscopy, stage 4 papilledema was confirmed in both eyes, and a slight decrease in the deep tendon reflex was observed. Whole-spine MRI and an autoantibody panel (anti-aquaporin 4 antibody [AQP4], anti-neurofilament antibody [NF], and anti-myelin oligodendrocyte glycoprotein [MOG]) revealed normal findings. Stool virus polymerase chain reaction (PCR) findings showed positivity for norovirus genogroup II (GII). She received intravenous immunoglobulin (IVIG) at a dose of 0.4 g/kg for 5 days and methylprednisolone (30 mg/kg/day) for 3 days. Her abdominal symptoms and visual acuity in the right eye improved. Further improvement was noted after acetazolamide was administered. A previously healthy 8-month-old girl (patient B) was brought to our ER with an ongoing seizure for 20 minutes. The patient had been treated for","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49562408","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}
引用次数: 1
Neurological Improvement in a Patient with Cerebroretinal Microangiopathy with Calcifications and Cysts-1 Treated with Bevacizumab 贝伐单抗治疗1例伴有钙化和囊肿的脑视网膜微血管病患者的神经系统改善
Annals of Child Neurology Pub Date : 2022-11-07 DOI: 10.26815/acn.2022.00248
Siefaddeen Sharayah, S. Agner, M. Shinawi, D. Rudnick, S. Mar
{"title":"Neurological Improvement in a Patient with Cerebroretinal Microangiopathy with Calcifications and Cysts-1 Treated with Bevacizumab","authors":"Siefaddeen Sharayah, S. Agner, M. Shinawi, D. Rudnick, S. Mar","doi":"10.26815/acn.2022.00248","DOIUrl":"https://doi.org/10.26815/acn.2022.00248","url":null,"abstract":"Cerebroretinal microangiopathy with calcifications and cysts-1 (CRMCC1), also known as Coats plus syndrome, is an autosomal recessive, multisystem disorder characterized by obliterative angiopathy of small vessels, primarily in the brain, eyes, bone, and gastrointestinal tract. The clinical features of this condition include prenatal and postnatal growth restriction, bilateral retinal tel-angiectasias and exudates, intracranial calcifica-tion, leukoencephalopathy sometimes associated with parenchymal cysts, osteopenia","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47803065","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}
引用次数: 0
Shaken Baby Syndrome and Accidental Traumatic Brain Injury: Characteristics and Effects on Legal Judgment 摇晃婴儿综合征与意外创伤性脑损伤:特征及其对法律判决的影响
Annals of Child Neurology Pub Date : 2022-10-19 DOI: 10.26815/acn.2022.00192
So Yeon Park, M. Han, Junhyoung Heo, Sun Jun Kim
{"title":"Shaken Baby Syndrome and Accidental Traumatic Brain Injury: Characteristics and Effects on Legal Judgment","authors":"So Yeon Park, M. Han, Junhyoung Heo, Sun Jun Kim","doi":"10.26815/acn.2022.00192","DOIUrl":"https://doi.org/10.26815/acn.2022.00192","url":null,"abstract":"Purpose: This study aimed to establish the medical evidence of abuse by comparing the clinical differences between children with shaken baby syndrome (SBS) who had no signs of trauma and traumatic brain injury (TBI). Methods: Children aged <5 years with intracranial hemorrhage (ICH) were divided into SBS group and TBI group, which was developed because of intentional or accidental trauma including physical violence. We investigated clinical characteristics, ICH and brain injury patterns, fundus-copic examinations, and the legal consequences for guardians. Results: Compared to TBI, children with SBS had a higher incidence of neurological symptoms, including seizures (80.0% vs. 15.4%, P =0.001) and mental changes (73.3% vs. 32.5%, P =0.003); they also had a longer time to hospitalization (SBS, 21.8±30.4 hours; TBI, 9.5±21.3 hours; P =0.046). The rate of bilateral ICH was significantly higher in the SBS group (73.3% vs. 19.0%, P =0.001). In the TBI group, the incidence of epidural hemorrhage (EDH) and subdural hemorrhage was equal (42.3%), but EDH was not seen in the SBS group. Multistage ICH (58.3%) and diffu-sion-limiting lesions (75.0%) were common in SBS, with high mortality and neurological sequelae (86.7%). Nevertheless, only a few guardians (13.3%) were separated from the victim and only one person (6.7%) who confessed to abuse was detained. Conclusion: Children with SBS who have never been affected to external physical forces can have multistage and bilateral ICH with severe brain damage, which is clinically different from TBI. Our data suggest that adequate protection and active legal actions are required in order to protect children who had sufficient characteristics of SBS.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42817854","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}
引用次数: 0
A Novel Skeletal Issue in Neurodevelopmental Disorders: A Case Report of a 4-Year-Old Boy with a GRIN2B Mutation and Sacroiliitis 神经发育障碍的一个新的骨骼问题:一例4岁男孩GRIN2B突变和骶髂炎病例报告
Annals of Child Neurology Pub Date : 2022-10-18 DOI: 10.26815/acn.2022.00157
Sunho Lee, J. Moon, H. Baek, Sae-Mi Lee
{"title":"A Novel Skeletal Issue in Neurodevelopmental Disorders: A Case Report of a 4-Year-Old Boy with a GRIN2B Mutation and Sacroiliitis","authors":"Sunho Lee, J. Moon, H. Baek, Sae-Mi Lee","doi":"10.26815/acn.2022.00157","DOIUrl":"https://doi.org/10.26815/acn.2022.00157","url":null,"abstract":"Glutamate ionotropic receptor N-methyl-D-as-partate type subunit 2B ( GRIN2B ) gene encodes GluN2B, a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is closely associated with human brain development [1]. GRIN2B -re-lated neurodevelopmental disorder presents as developmental delay or intellectual disability with other neurologic phenotypes, such as abnormal muscle tone, epilepsy, and autism spectrum disorder [2]. Early-onset findings include microcepha-ly, cortical malformation, and severe epileptic en-cephalopathy [3]. Pediatric use various diagnostic to identify nervous system abnormalities in children with developmental delay. example,","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47613236","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}
引用次数: 0
CASK Mutation in an Infant with Microcephaly, Pontocerebellar Hypoplasia, and Hearing Loss 婴儿小头畸形、桥小脑发育不全和听力损失的CASK突变
Annals of Child Neurology Pub Date : 2022-10-01 DOI: 10.26815/acn.2022.00283
J. Byun, J. Ha
{"title":"CASK Mutation in an Infant with Microcephaly, Pontocerebellar Hypoplasia, and Hearing Loss","authors":"J. Byun, J. Ha","doi":"10.26815/acn.2022.00283","DOIUrl":"https://doi.org/10.26815/acn.2022.00283","url":null,"abstract":"The requirement for informed consent was waived by board. A female infant was born at 40 weeks of gesta-tion by vaginal delivery at a local hospital. There were no remarkable complications during the pregnancy. The infant had a birth weight of 3,200 g (50th percentile), a height of 49.5 cm (50th to 75th percentile), and a head circumference of 33.5 cm (25th to 50th percentile). Immediately after birth, the auditory brainstem response test results were 35 dB on the left and 60 dB on the right and she had hearing aid treatment. She was found to have severe microcephaly (<1st percen-tile) persistently in routine infant check-ups (at 2 months), so she underwent brain computed to-mography (CT) when she was 5 months old at another clinic. Cerebellar hypoplasia was found on the brain CT. When she came to our clinic (at 6 months), her weight was 7,830 g (50th to 75th percentile), her length was 65.3 cm (25th to 50th percentile), and her head circumference was 37.7 cm (–4 SD [38.1 cm]). She had facial particularities, including an oval face, micrognathia, arched eyebrows, hypertelorism, long eyelashes, epican-thus, low-set and prominent ears, long philtrum,","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48190483","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}
引用次数: 0
A Case of Progressive Multifocal Leukoencephalopathy in a Child with Hyper-Immunoglobulin M Syndrome: The Impact of Missed Care during the COVID-19 Pandemic 一例患有高免疫球蛋白M综合征的儿童进展性多灶性白质脑病:新冠肺炎大流行期间错过护理的影响
Annals of Child Neurology Pub Date : 2022-10-01 DOI: 10.26815/acn.2022.00241
A. Park, H. Kim, Soyoung Lee, H. Yu
{"title":"A Case of Progressive Multifocal Leukoencephalopathy in a Child with Hyper-Immunoglobulin M Syndrome: The Impact of Missed Care during the COVID-19 Pandemic","authors":"A. Park, H. Kim, Soyoung Lee, H. Yu","doi":"10.26815/acn.2022.00241","DOIUrl":"https://doi.org/10.26815/acn.2022.00241","url":null,"abstract":"Progressive multifocal leukoencephalopathy (PML) is a frequently fatal subacute demyelinating disease of cerebral white matter caused by the human polyomavirus 2, commonly known as the John Cunningham virus (JCV) [1]. PML is primarily reported in patients with severe immunosuppression caused by human immunodeficiency virus (HIV) infection, hematologic malignancy, or immunosuppressive therapy, including natalizumab for multiple sclerosis and rituximab for Crohn’s disease [1]. However, PML has also been reported in primary immunodeficiencies (PID), including those with hyper-immunoglobulin M syndrome (HIGM), common variable immunodeficiency, and Wiskott-Aldrich syndrome [2]. In this case study, we describe PML in an immunocompromised child with HIGM during the coronavirus disease 2019 (COVID-19) pandemic. A 6-year-old boy with a history of HIGM was examined after experiencing 3 weeks of left-side weakness in June 2021. The patient had a history of recurrent otitis media and pneumonia since 12 months of age and pertussis at 30 months of age. The patient was diagnosed with HIGM after the pertussis workup. The patient had no family history of immunodeficiency, and his development was normal. The patient had been treated with monthly intravenous immunoglobulin (IVIG) replacement therapy, which had been discontinued 7 months previously because the patient’s parents thought it would be risky to visit a hospital during the COVID-19 pandemic and underestimated the risk of opportunistic infections. The patient had been showing fatigue and poor concentration for 3 weeks prior to the visit and decreased left hand and arm movement for 10 days prior to the visit. The patient did not show signs of upper respiratory or gastrointestinal infection symptoms. The patient was mentally alert; however, a physical examination revealed additional central left facial palsy, urinary incontinence, mutism, and cognitive decline. The patient’s motor grade of the left upper extremity was rated as grade III, and the left lower extremity was rated as grade IV. Right upper and lower motor function was intact. No pathologic reflexes were found. Serum inflammatory markers, including C-reactive protein and the erythrocyte sedimentation rate, were within the normal range. Lymphocyte subset counts were also within the normal range for the patient’s age (Table 1). Serum immunoglobulin (Ig) G and IgA levels were extremely low, with","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49403685","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}
引用次数: 0
Anti-GD1b-Positive Miller Fisher syndrome Presenting as Total Ophthalmoplegia 抗gd1b阳性米勒费雪综合征表现为全眼麻痹
Annals of Child Neurology Pub Date : 2022-09-26 DOI: 10.26815/acn.2022.00234
Seo Jeong Hwang, H. Kim
{"title":"Anti-GD1b-Positive Miller Fisher syndrome Presenting as Total Ophthalmoplegia","authors":"Seo Jeong Hwang, H. Kim","doi":"10.26815/acn.2022.00234","DOIUrl":"https://doi.org/10.26815/acn.2022.00234","url":null,"abstract":"Miller Fisher syndrome (MFS) is a variant of Guillain-Barre syndrome (GBS) characterized by ataxia, areflexia, and ophthalmoplegia. It is often linked to cross-reacting antibodies to the GQ1b ganglioside found in cranial nerve myelin [1]. The presence of GQ1b at significantly higher levels in the oculomotor, trochlear, and abducens nerve myelin is often cited as an explanation for ophthalmoplegia [1]. Anti-GQ1b immunoglobulin G (IgG) antibodies are detected in more than 90% of patients with MFS [2]. However, we observed a case of MFS with severe ophthalmoplegia presenting as frozen eyes, in which anti-GQ1b IgG was negative, while anti-GD1b IgG was positive. An 11-year-old boy presented to the outpatient clinic with headache, dizziness, vomiting, diplopia, ataxia, and a tingling sensation in the fingers for 3 days. He could not stand or walk without support. There was no fever at the time of presentation; however, 3 weeks ago he had experienced a high fever with loose stool for 2 days. His mental status was alert and his vital signs were within the normal range. His muscle strength was grade V in both the upper and lower extremities. The cranial nerve test was intact except for bilateral total ophthalmoplegia (Fig. 1). There was no nystagmus. Deep tendon reflex testing showed areflexia of both knees. On admission, brain magnetic resonance imaging (MRI) and whole-spine MRI were normal. Nerve conduction studies of both upper and lower extremities suggested acute inflammatory demyelinating polyneuropathy because both H-reflexes were absent. No electrophysiological abnormalities were observed in the left and right blink reflex pathways. On a blood test, the white blood cell count was 10,290/mm with 66.4% of segment neutrophils. The C-reactive protein level was 0.1 mg/dL. The thyroid function test was normal. Cerebrospinal fluid (CSF) examinations showed a white blood cell count of 2/mm, a protein level of 25.5 mg/dL, and a glucose level of 62 mg/dL. Bacterial culture, herpes simplex virus polymerase chain reaction (PCR), and acid-fast bacillus stain of CSF were all negative. In a stool PCR examination, Campylobacter species were identified. Serum anti-GM1 IgG and anti-GQ1b IgG were negative, but anti-GD1b IgG was positive. We administered intravenous immunoglobulin (0.5 g/kg/day) for 4 days upon admission under the diagnosis of MFS. The patient’s ataxia and headache immediately improved after treatment. However, only adduction of the left eye was possible immediately after the treatment. The tingling sensation of the fingers improved after 2 weeks. Ophthalmoplegia slowly improved. Two months later, bilateral total ophthalmoplegia had completely improved. Total bilateral ophthalmoplegia is very rare.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41553127","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}
引用次数: 0
Myoclonic-Atonic Epilepsy Masquerading as Subacute Sclerosing Panencephalitis: A Clinical Conundrum 肌克隆性特发性癫痫伪装成亚急性硬化性全脑炎:一个临床难题
Annals of Child Neurology Pub Date : 2022-09-22 DOI: 10.26815/acn.2022.00227
Rahul Sinha, Sonali Singh, N. Balamurugan, A. Pandey
{"title":"Myoclonic-Atonic Epilepsy Masquerading as Subacute Sclerosing Panencephalitis: A Clinical Conundrum","authors":"Rahul Sinha, Sonali Singh, N. Balamurugan, A. Pandey","doi":"10.26815/acn.2022.00227","DOIUrl":"https://doi.org/10.26815/acn.2022.00227","url":null,"abstract":"Myoclonic epilepsy of infancy, myoclonic-atonic epilepsy (MAE) with onset in early childhood, and later-onset syndromes such as juvenile myoclonic epilepsy, eyelid myoclonic epilepsy, and myoclonic absence epilepsy are all examples of child-hood-onset myoclonic epilepsy syndromes. De-generative brain disorders, subacute sclerosing panencephalitis (SSPE), autoimmune disorders, and a few mitochondrial abnormalities are among the other uncommon causes. There have been at-tempts to define hereditary myoclonic epilepsies that do not meet the recognised criteria for myoclonic epilepsy syndromes [1]. The cognitive out-comes of epilepsy syndromes vary, but in general, they have a good prognosis. Myoclonic-atonic epilepsy is classified as an epileptic encephalopa-thy,","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49478636","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}
引用次数: 0
Clinical Spectrum and Treatment Outcomes of Patients with Developmental and/or Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep 睡眠中棘波激活的发展性和/或癫痫性脑病患者的临床光谱和治疗结果
Annals of Child Neurology Pub Date : 2022-09-21 DOI: 10.26815/acn.2022.00269
Nuri Tchah, Donghwa Yang, H. Kim, Joon Soo Lee, S. H. Kim, Hoon-Chul Kang
{"title":"Clinical Spectrum and Treatment Outcomes of Patients with Developmental and/or Epileptic Encephalopathy \u0000with Spike-and-Wave Activation in Sleep","authors":"Nuri Tchah, Donghwa Yang, H. Kim, Joon Soo Lee, S. H. Kim, Hoon-Chul Kang","doi":"10.26815/acn.2022.00269","DOIUrl":"https://doi.org/10.26815/acn.2022.00269","url":null,"abstract":"Purpose: Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS) is a spectrum of conditions characterized by various phenotypes of cognitive, linguistic, and behavioral regression associated with spike-and-wave activation in sleep. We aimed to investigate the phenotypic spectrum and treatment outcomes of pediatric patients with D/EE-SWAS. Methods: We retrospectively analyzed the medical records of pediatric patients diagnosed with D/EE-SWAS and treated at Severance Children’s Hospital from 2006 to 2022. We extracted information from their medical records on electroencephalography before and after treatment, types of treatment, seizure frequency, and developmental profiles. The primary outcome was reduction of the spike-wave index on electroencephalography after treatment. Results: Twenty-one patients with a median age of 5.3 years (interquartile range, 4.1 to 6.6) at diagnosis were included. Ten patients had delayed development. The patients received various anti-seizure medications. Fourteen received long-term, high-dose steroid therapy, 10 were placed on a ketogenic diet, four received intravenous steroid pulse therapy, and one each was treated with intravenous immunoglobulin and cannabidiol. The most effective treatments were steroid therapy and a ketogenic diet, which were also effective in reducing seizures and improving cognition. Side effects during treatment were transient and treatable. Conclusion: We described the clinical spectrum of pediatric patients with D/EE-SWAS. Steroid therapy and a ketogenic diet can be considered effective therapeutic options for patients with D/ EE SWAS.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46744762","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}
引用次数: 0
A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A SCN4A基因R1448H突变的先天性副肌张力症家族
Annals of Child Neurology Pub Date : 2022-09-16 DOI: 10.26815/acn.2022.00206
Yoo Jung Lee, Yoon Hee Jo, Young Mi Kim
{"title":"A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A","authors":"Yoo Jung Lee, Yoon Hee Jo, Young Mi Kim","doi":"10.26815/acn.2022.00206","DOIUrl":"https://doi.org/10.26815/acn.2022.00206","url":null,"abstract":"Paramyotonia congenita (PC) is a type of Na channelopathy caused by mutations in the Na voltage-gated channel alpha subunit 4 (SCN4A) gene on chromosome 17q23, which encodes voltage-gated Na channels (Nav1.4) in skeletal muscles and is inherited in an autosomal dominant pattern [1,2]. These channels are integral membrane proteins that exist in most excitable cells. They are mainly responsible for rapid membrane depolarization, which is the initial phase of the action potential. Rapid inactivation after an action potential prevents repetitive excitation and maintains normal physiological excitability of skeletal muscles. Abnormal activity of human skeletal muscle due to a dysfunctional Na channel α-subunit with an SCN4A mutation causes excessive excitability and leads to the activation or inactivation of the channel. Clinical phenotypes associated with SCN4A mutations include PC, type 2 hyperkalemic periodic paralysis (PP), type 2 hypokalemic PP, congenital myasthenic syndrome-16, and acetazolamide-responsive myotonia congenita [1]. Furthermore, PC is characterized by muscular myotonia without weakness, and it mainly affects the muscles of the neck, face, and upper limbs. PC typically occurs in infancy or childhood and is triggered by exposure to cold or physical activity [3]. In this paper, we report the case of a male adolescent and his three-generation family with PC caused by an SCN4A mutation. This case was reviewed and approved by the Institutional Review Board of Pusan National University Hospital (IRB No. 2205-013-114). Informed consent was obtained from all parents. Patients’ medical records and other data were anonymized to ensure confidentiality. The proband was a 14-year-old boy with a 2-year history of episodic muscular stiffness and weakness. The patient often experienced weakness and stiffness in the lower and upper extremities. During exercise, the lower extremities were affected more than the upper extremities; however, symptoms were also observed in the hands, arms, and face. During the asymptomatic period, the patient exercised normally. However, once symptoms developed, the patient was unable to move. When exposed to cold environments, such as when washing the face or during cold weather, symptoms were aggravated in the exposed body parts. The patient was born at a gestational age of 40 weeks via normal vaginal delivery, weighing 3,400 g. He showed normal development and growth. The mother of the patient also had stiffening and muscle weakness in the upper extremities, face,","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47618908","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}
引用次数: 0
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