Anish Ainapure, Shilpa D. Kulkarni, F. Gala, Payal Shah, V. Gavali
Abstract A one and half-year-old baby boy presented with subacute regression of milestones in all domains. On examination, he had spastic dystonic quadriparesis. Reflexes were brisk. Magnetic resonance imaging of the brain showed diffuse cavitating leukodystrophy involving bilateral periventricular white matter, centrum semiovale, and corona radiata. Magnetic resonance spectroscopy revealed a lactate peak and serum lactate levels were also elevated. Genetic studies revealed compound heterozygous autosomal recessive mutations in IBA57 gene. This case illustrates a rare mitochondrial encephalopathy called multiple mitochondrial dysfunction syndrome-3 caused by a novel IBA57 gene mutation.
{"title":"Mitochondrial Leukoencephalopathy in a One and Half-Year-old Boy","authors":"Anish Ainapure, Shilpa D. Kulkarni, F. Gala, Payal Shah, V. Gavali","doi":"10.1055/s-0042-1757195","DOIUrl":"https://doi.org/10.1055/s-0042-1757195","url":null,"abstract":"Abstract A one and half-year-old baby boy presented with subacute regression of milestones in all domains. On examination, he had spastic dystonic quadriparesis. Reflexes were brisk. Magnetic resonance imaging of the brain showed diffuse cavitating leukodystrophy involving bilateral periventricular white matter, centrum semiovale, and corona radiata. Magnetic resonance spectroscopy revealed a lactate peak and serum lactate levels were also elevated. Genetic studies revealed compound heterozygous autosomal recessive mutations in IBA57 gene. This case illustrates a rare mitochondrial encephalopathy called multiple mitochondrial dysfunction syndrome-3 caused by a novel IBA57 gene mutation.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"100 1","pages":"114 - 117"},"PeriodicalIF":0.2,"publicationDate":"2022-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88365038","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}
K. Yadav, Arpita Mishra, R. Narayan, Ashutosh Kumar Singh, R. Agrawal, O. Mishra
Abstract Homocystinuria (HCU) is an autosomal recessive metabolic disorder due to a defect in cystathionine beta synthase activity which results in homocysteine accumulation in the body. We report a case series of two siblings,11-year-old girl and 3-year-old boy, studied retrospectively. They were born to a nonconsanguineous parents and diagnosed as a case of HCU based on the presence of ectopia lentis and development of cerebral venous thrombosis and infarction. Child who presented late with paresis had delayed developmental milestones with low intelligence quotient (IQ), while the second child diagnosed at a younger age had relatively normal IQ and cognitive development. Serious clinical sequelae such as life-threatening thromboembolic events at a young age and mental retardation can be prevented by early screening and prompt treatment of the patients detected to have HCU.
{"title":"Homocystinuria Presenting as Ectopia Lentis and Thrombotic Manifestations in Two Siblings: A Case Series","authors":"K. Yadav, Arpita Mishra, R. Narayan, Ashutosh Kumar Singh, R. Agrawal, O. Mishra","doi":"10.1055/s-0042-1757624","DOIUrl":"https://doi.org/10.1055/s-0042-1757624","url":null,"abstract":"Abstract Homocystinuria (HCU) is an autosomal recessive metabolic disorder due to a defect in cystathionine beta synthase activity which results in homocysteine accumulation in the body. We report a case series of two siblings,11-year-old girl and 3-year-old boy, studied retrospectively. They were born to a nonconsanguineous parents and diagnosed as a case of HCU based on the presence of ectopia lentis and development of cerebral venous thrombosis and infarction. Child who presented late with paresis had delayed developmental milestones with low intelligence quotient (IQ), while the second child diagnosed at a younger age had relatively normal IQ and cognitive development. Serious clinical sequelae such as life-threatening thromboembolic events at a young age and mental retardation can be prevented by early screening and prompt treatment of the patients detected to have HCU.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"299 1","pages":"395 - 398"},"PeriodicalIF":0.2,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87415049","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}
Abstract A 9-year-old girl presented with asymmetric abnormal twisting movements affecting her left side more than the right side, initially action induced, but later persistent. Examination revealed generalized persistent dystonia with choreoathetosis and right partial tonic ocular tilt reaction. Brain magnetic resonance imaging showed T1 and T2 fluid-attenuated inversion recovery (FLAIR) hypointense and T2 hyperintense signal changes in bilateral globus pallidi. Clinical exome sequencing revealed compound heterozygous variatnts in enoyl-CoA hydratase-1 ( ECHS1 ) gene: a novel pathogenic variant in exon 6, chr10:g.133366045G > A (p.Gln224Ter) and a likely pathogenic variant in exon 5, chr10:g.133366990G > A (p.Ala173Val). Metabolic testing and arterial lactate levels were normal. She was treated with valine restricted diet, trihexiphenidyl, clonazepam, N-acetyl cysteine and mitochondrial cocktail, without significant improvement over the 6 months follow-up period.
摘要1例9岁女童表现为不对称的异常扭转运动，其左侧多于右侧，最初是由动作引起的，但后来持续存在。检查显示全身性持续性肌张力障碍伴舞蹈症和右侧部分强直性眼倾斜反应。脑磁共振成像显示双侧苍白球T1、T2液体衰减反转恢复(FLAIR)低信号和T2高信号改变。临床外显子组测序揭示了烯酰辅酶a水合酶1 (ECHS1)基因的复合杂合变异:外显子6 chr10:g中的一种新的致病变异。133366045G > A (p.Gln224Ter)和chr10:g外显子5中可能的致病变异。133366990G > A (p.Ala173Val)。代谢测试和动脉乳酸水平正常。患者接受缬氨酸限制饮食、三己苯醚、氯硝西泮、n -乙酰半胱氨酸和线粒体鸡尾酒治疗，随访6个月无明显改善。
{"title":"A Novel Variant of the Short-Chain Enoyl-CoA Hydratase-1 Gene Presenting with a Mild Phenotype: The Second Case Report from India","authors":"Suman Das, B. Ray, U. Chakraborty, Sujoy Kabiraj","doi":"10.1055/s-0042-1751248","DOIUrl":"https://doi.org/10.1055/s-0042-1751248","url":null,"abstract":"Abstract A 9-year-old girl presented with asymmetric abnormal twisting movements affecting her left side more than the right side, initially action induced, but later persistent. Examination revealed generalized persistent dystonia with choreoathetosis and right partial tonic ocular tilt reaction. Brain magnetic resonance imaging showed T1 and T2 fluid-attenuated inversion recovery (FLAIR) hypointense and T2 hyperintense signal changes in bilateral globus pallidi. Clinical exome sequencing revealed compound heterozygous variatnts in enoyl-CoA hydratase-1 ( ECHS1 ) gene: a novel pathogenic variant in exon 6, chr10:g.133366045G > A (p.Gln224Ter) and a likely pathogenic variant in exon 5, chr10:g.133366990G > A (p.Ala173Val). Metabolic testing and arterial lactate levels were normal. She was treated with valine restricted diet, trihexiphenidyl, clonazepam, N-acetyl cysteine and mitochondrial cocktail, without significant improvement over the 6 months follow-up period.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"50 1","pages":"377 - 383"},"PeriodicalIF":0.2,"publicationDate":"2022-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88649266","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}
Abstract Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare but treatable, often paraneoplastic neuroimmunologic condition. This is a retrospective chart review of 8 patients diagnosed in the past 11 years at a tertiary care hospital. The mean age of children with OMAS was 21.2 ± 8 months. There was a female preponderance (62.5%). Median symptom duration was 24.5 days (interquartile range [IQR] 12.7; 97.5). All patients had ataxia and irritability; 6 had opsoclonus. An underlying neurogenic tumor was identified in 87.5% (⅞) of the patients by computed tomography (CT)/magnetic resonance imaging. Neuroblastoma was detected in ⅘ with normal 24-hour urinary vanillylmandelic acid and 2 had negative metaiodobenzylguanidine scan. All patients received adrenocorticotropic hormone/steroids for a median of 9.5 months (IQR 5.3; 13.5) with clonazepam. Five received intravenous immunoglobulin (IVIG), including repeated cycles in ⅘. Two received rituximab. One child with relapsing-remitting course received pulse dexamethasone and cyclophosphamide, resulting in improvement. Clonazepam restored ambulation in one with delayed diagnosis and failure of response to steroids. Six patients underwent tumor resection and four needed chemotherapies. Median follow-up was 15 months (IQR 10.7; 23.2). Mean OMAS-severity scale reduced from 10 to 1.4 in the IVIG group and 10.6 to 5.3 in those who did not receive IVIG. Cognitive delay and behavioral issues were seen in 100% treated with steroids only; 50 and 25%, respectively, treated with multimodal immunotherapy. Five had relapses, one with tumor recurrence. Thorax and abdomen CT scan was found to be a sensitive tool for tumor detection. Better motor and cognitive behavioral outcome were noted in patients who received adjunctive IVIG. Future studies on optimum investigation and treatment protocol in various resource settings are needed.
{"title":"Profile and Outcome of Children with Opsoclonus Myoclonus Ataxia: A Tertiary Care Hospital Experience from India","authors":"Bidisha Banerjee, Ayesha Thanvi, S. M. Prabhu","doi":"10.1055/s-0042-1750762","DOIUrl":"https://doi.org/10.1055/s-0042-1750762","url":null,"abstract":"Abstract Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare but treatable, often paraneoplastic neuroimmunologic condition. This is a retrospective chart review of 8 patients diagnosed in the past 11 years at a tertiary care hospital. The mean age of children with OMAS was 21.2 ± 8 months. There was a female preponderance (62.5%). Median symptom duration was 24.5 days (interquartile range [IQR] 12.7; 97.5). All patients had ataxia and irritability; 6 had opsoclonus. An underlying neurogenic tumor was identified in 87.5% (⅞) of the patients by computed tomography (CT)/magnetic resonance imaging. Neuroblastoma was detected in ⅘ with normal 24-hour urinary vanillylmandelic acid and 2 had negative metaiodobenzylguanidine scan. All patients received adrenocorticotropic hormone/steroids for a median of 9.5 months (IQR 5.3; 13.5) with clonazepam. Five received intravenous immunoglobulin (IVIG), including repeated cycles in ⅘. Two received rituximab. One child with relapsing-remitting course received pulse dexamethasone and cyclophosphamide, resulting in improvement. Clonazepam restored ambulation in one with delayed diagnosis and failure of response to steroids. Six patients underwent tumor resection and four needed chemotherapies. Median follow-up was 15 months (IQR 10.7; 23.2). Mean OMAS-severity scale reduced from 10 to 1.4 in the IVIG group and 10.6 to 5.3 in those who did not receive IVIG. Cognitive delay and behavioral issues were seen in 100% treated with steroids only; 50 and 25%, respectively, treated with multimodal immunotherapy. Five had relapses, one with tumor recurrence. Thorax and abdomen CT scan was found to be a sensitive tool for tumor detection. Better motor and cognitive behavioral outcome were noted in patients who received adjunctive IVIG. Future studies on optimum investigation and treatment protocol in various resource settings are needed.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"64 1","pages":"095 - 100"},"PeriodicalIF":0.2,"publicationDate":"2022-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74269347","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}
Pediatric seizures are one of the most common neurological manifestations seen in pediatrics. Unravelling the etiology, timely and appropriate investigations followed by suitable therapies are essential for improving quality of life. During the pandemic, focused group discussions were conducted among 50 pediatric neurologists across five cities in India to gather insights on treatment practices in pediatric epilepsy and to optimize therapeutic strategies and alternative approaches for rational use of antiepileptic medications. These discussions were mainly aimed at reviewing current literature on prevalence, etiology, diagnosis, and management of epilepsy in children and subsequently rationalizing diagnostic and treatment approaches in routine clinical practice. Epileptic encephalopathies comprise of childhood epilepsy with progressive cerebral dysfunction. Genomics plays a vital role in identifying the underlying genetic associations, empowering precision therapy. Currently, the ketogenic diet has become a well-recognized modality for reducing severity of seizures. To overcome the high incidence of adverse effects due to older antiepileptic drugs, newer drugs are being developed to improve ease of use, diminish drug interactions, decrease adverse effects, and identify drugs with unique mechanisms of action. Common lacunae in practice include information gaps, educating parents, or caregivers about rational drug use and ensuring compliance to antiepileptic medications. This article discussed the consensus clinical viewpoint of expert clinicians, as well as insights on optimized treatment of pediatric epilepsies in both infancy and childhood. It also discusses aspects, like reducing drug burden, emerging therapies in the identification of the genetic basis of epilepsies, and targeted therapy alternatives, for pediatric populations in the Indian scenario.
{"title":"A Review of the Prevalence, Etiology, Diagnosis, and Management of Pediatric Epilepsies in India","authors":"V. Kalra, V. Viswanathan, Harshuti Shah","doi":"10.1055/s-0042-1742689","DOIUrl":"https://doi.org/10.1055/s-0042-1742689","url":null,"abstract":"Pediatric seizures are one of the most common neurological manifestations seen in pediatrics. Unravelling the etiology, timely and appropriate investigations followed by suitable therapies are essential for improving quality of life. During the pandemic, focused group discussions were conducted among 50 pediatric neurologists across five cities in India to gather insights on treatment practices in pediatric epilepsy and to optimize therapeutic strategies and alternative approaches for rational use of antiepileptic medications. These discussions were mainly aimed at reviewing current literature on prevalence, etiology, diagnosis, and management of epilepsy in children and subsequently rationalizing diagnostic and treatment approaches in routine clinical practice. Epileptic encephalopathies comprise of childhood epilepsy with progressive cerebral dysfunction. Genomics plays a vital role in identifying the underlying genetic associations, empowering precision therapy. Currently, the ketogenic diet has become a well-recognized modality for reducing severity of seizures. To overcome the high incidence of adverse effects due to older antiepileptic drugs, newer drugs are being developed to improve ease of use, diminish drug interactions, decrease adverse effects, and identify drugs with unique mechanisms of action. Common lacunae in practice include information gaps, educating parents, or caregivers about rational drug use and ensuring compliance to antiepileptic medications. This article discussed the consensus clinical viewpoint of expert clinicians, as well as insights on optimized treatment of pediatric epilepsies in both infancy and childhood. It also discusses aspects, like reducing drug burden, emerging therapies in the identification of the genetic basis of epilepsies, and targeted therapy alternatives, for pediatric populations in the Indian scenario.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"10 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86996095","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}
Merve Akyuz, N. Dursun, Tugba Gokbel, C. Cekmece, E. Dursun
Abstract The aim of this study is to evaluate the changes in activity and participation domains of International Classification of Functioning (ICF), Disability and Health, in children with cerebral palsy (CP) who received integrated botulinum toxin A (BoNT-A) treatment with intensive rehabilitation with a treatment goal of improved sitting balance. In this prospective observational study, 29 patients with CP (mean age: 6.7 ± 3.8 years) and the Gross Motor Function Classification System (GMFCS) levels of IV and V were included. The primary outcome measures were the mean changes from baseline to posttreatment weeks 10 to 12 of the Child and Adolescent Scale of Participation (CASP) and Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD). The modified Ashworth scale (MAS) and Tardieu scale (TS) results at 6 to 8 weeks of posttreatment were the secondary outcome measures. Statistically significant improvements in home and community participation of CASP ( p < 0.001 and 0.001), CPCHILD ( p < 0.01), MAS ( p < 0.001), and all parameters of TS ( p < 0.05) were recorded after treatment. The result of this prospective, observational study showed that the functional improvements in sitting balance by the integrated BoNT-A treatment provides positive effects on activity and participation levels of the patient and quality of life of patients and their families.
{"title":"Improved Sitting Balance in Children with Cerebral Palsy: Body Functions to Activity and Participation","authors":"Merve Akyuz, N. Dursun, Tugba Gokbel, C. Cekmece, E. Dursun","doi":"10.1055/s-0042-1749588","DOIUrl":"https://doi.org/10.1055/s-0042-1749588","url":null,"abstract":"Abstract The aim of this study is to evaluate the changes in activity and participation domains of International Classification of Functioning (ICF), Disability and Health, in children with cerebral palsy (CP) who received integrated botulinum toxin A (BoNT-A) treatment with intensive rehabilitation with a treatment goal of improved sitting balance. In this prospective observational study, 29 patients with CP (mean age: 6.7 ± 3.8 years) and the Gross Motor Function Classification System (GMFCS) levels of IV and V were included. The primary outcome measures were the mean changes from baseline to posttreatment weeks 10 to 12 of the Child and Adolescent Scale of Participation (CASP) and Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD). The modified Ashworth scale (MAS) and Tardieu scale (TS) results at 6 to 8 weeks of posttreatment were the secondary outcome measures. Statistically significant improvements in home and community participation of CASP ( p < 0.001 and 0.001), CPCHILD ( p < 0.01), MAS ( p < 0.001), and all parameters of TS ( p < 0.05) were recorded after treatment. The result of this prospective, observational study showed that the functional improvements in sitting balance by the integrated BoNT-A treatment provides positive effects on activity and participation levels of the patient and quality of life of patients and their families.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"3 1","pages":"386 - 391"},"PeriodicalIF":0.2,"publicationDate":"2022-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84200574","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}
Idiopathic toe-walking (ITW) is considered a diagnosis of exclusion for which no underlying neurological, neuromuscular, neurodevelopmental, or orthopedic condition can be identified. The purpose of this review was to examine multiple aspects of ITW: natural history, evaluation, treatment, musculoskeletal manifestations, and developmental issues through the review of studies from the initial description of condition in 1967 to the present. From a PubMed search and review of reference lists of individual articles, 64 articles were selected and reviewed. The studied samples were variably described and often not well-defined. Gait analysis found gait characteristics associated with ITW that varied from normal. Children with ITW can be differentiated from children with cerebral palsy on the basis of several gait pattern features, but findings from electromyographic comparisons were variable. Treatments included orthoses, casting, botulinum toxin type A, and surgery. The evidence to support any specific treatment is limited by the small sample size and short duration of follow-up in the majority of studies. The inadequacy of the current literature suggests the need for a longitudinal multi-center study to more clearly define the population of children with ITW and to determine indications, timing, and effectiveness of the various available treatments.
{"title":"Idiopathic Toe-Walking: A Review from 1967 to 2021","authors":"D. Sala","doi":"10.1055/s-0042-1742583","DOIUrl":"https://doi.org/10.1055/s-0042-1742583","url":null,"abstract":"Idiopathic toe-walking (ITW) is considered a diagnosis of exclusion for which no underlying neurological, neuromuscular, neurodevelopmental, or orthopedic condition can be identified. The purpose of this review was to examine multiple aspects of ITW: natural history, evaluation, treatment, musculoskeletal manifestations, and developmental issues through the review of studies from the initial description of condition in 1967 to the present. From a PubMed search and review of reference lists of individual articles, 64 articles were selected and reviewed. The studied samples were variably described and often not well-defined. Gait analysis found gait characteristics associated with ITW that varied from normal. Children with ITW can be differentiated from children with cerebral palsy on the basis of several gait pattern features, but findings from electromyographic comparisons were variable. Treatments included orthoses, casting, botulinum toxin type A, and surgery. The evidence to support any specific treatment is limited by the small sample size and short duration of follow-up in the majority of studies. The inadequacy of the current literature suggests the need for a longitudinal multi-center study to more clearly define the population of children with ITW and to determine indications, timing, and effectiveness of the various available treatments.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"25 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84512357","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}
Manisha Goyal, M. Faruq, Ashok K. Gupta, Divya Shrivastava, U. Shamim
Abstract Mowat–Wilson syndrome (MWS; Online Mendelian Inheritance in Man #235730) is a rare disorder characterized by developmental delay, severe intellectual disability, distinctive facial dysmorphism, and multiple associated abnormalities caused by mutation or deletion of ZEB2 gene. Here we report a 13 months old boy with characteristic facial features of MWS, global developmental delay, peculiar behavior, microcephaly, and hypospadias. Array comparative genomic hybridization (CGH) revealed a 5.7-Mb deletion of 2q22.2q22.3 region. The deletion contains 10 genes, including LRP1B, KYNU, ARHGAP15, GTDC1, ZEB2, ZEB2-AS1, TEX41, MBD5, ORC4, and ACVR2A. Our case shows the utility of array CGH in identifying such complex phenotype.
{"title":"Deletion of 2q22.2q22.3 in Mowat–Wilson Syndrome: A Case Report and Review of the Literature","authors":"Manisha Goyal, M. Faruq, Ashok K. Gupta, Divya Shrivastava, U. Shamim","doi":"10.1055/s-0042-1749670","DOIUrl":"https://doi.org/10.1055/s-0042-1749670","url":null,"abstract":"Abstract Mowat–Wilson syndrome (MWS; Online Mendelian Inheritance in Man #235730) is a rare disorder characterized by developmental delay, severe intellectual disability, distinctive facial dysmorphism, and multiple associated abnormalities caused by mutation or deletion of ZEB2 gene. Here we report a 13 months old boy with characteristic facial features of MWS, global developmental delay, peculiar behavior, microcephaly, and hypospadias. Array comparative genomic hybridization (CGH) revealed a 5.7-Mb deletion of 2q22.2q22.3 region. The deletion contains 10 genes, including LRP1B, KYNU, ARHGAP15, GTDC1, ZEB2, ZEB2-AS1, TEX41, MBD5, ORC4, and ACVR2A. Our case shows the utility of array CGH in identifying such complex phenotype.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"58 1","pages":"440 - 444"},"PeriodicalIF":0.2,"publicationDate":"2022-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85053858","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}
B. Samur, Gülhan Ercan-Sencicek, H. Gumuş, G. Gumus, A. Baykan, A. Çağlayan, H. Per
{"title":"Erratum: Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1","authors":"B. Samur, Gülhan Ercan-Sencicek, H. Gumuş, G. Gumus, A. Baykan, A. Çağlayan, H. Per","doi":"10.1055/s-0042-1759571","DOIUrl":"https://doi.org/10.1055/s-0042-1759571","url":null,"abstract":"","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"72 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86211213","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}
B. Samur, Gülhan Ercan-Sencicek, H. Gumuş, G. Gumus, A. Baykan, A. Çağlayan, H. Per
Abstract The cytoskeleton is a dynamic filamentous network with various cellular and developmental functions. The loss of cytosolic carboxypeptidase 1 (CCP1) causes neuronal death. Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA, OMIM no.: 618276) is an extremely rare disease caused by ATP/GTP binding protein 1 ( AGTPBP1 ) gene-related CCP1 dysfunction of microtubules affecting the cerebellum, spinal motor neurons, and peripheral nerves. Also, possible problems are expected in tissues where the cytoskeleton plays a dynamic role, such as cardiomyocytes. In the present study, we report a novel homozygous missense (NM_015239: c.2447A > C, p. Gln816Pro) variant in the AGTPBP1 gene that c.2447A > C variant has never been reported in a homozygous state in the Genome Aggregation (gnomAD; v2.1.1) database, identified by whole-exome sequencing in a patient with a seizure, dystonia, dilated cardiomyopathy (DCM), and accompanying atrophy of caudate nuclei, putamen, and cerebellum. Unlike other cases in the literature, we expand the phenotype associated with AGTPBP1 variants to include dysmorphic features, idiopathic DCM which could be reversed with supportive treatments, seizure patterns, and radiological findings. These findings expanded the spectrum of the AGTPBP1 gene mutations and associated possible manifestations. Our study may help establish appropriate genetic counseling and prenatal diagnosis for undiagnosed neurodegenerative patients.
细胞骨架是一个动态的丝状网络，具有多种细胞和发育功能。胞质羧肽酶1 (CCP1)的缺失导致神经元死亡。儿童期神经退行性变伴小脑萎缩(CONDCA, OMIM no。: 618276)是由ATP/GTP结合蛋白1 (AGTPBP1)基因相关的微管CCP1功能障碍影响小脑、脊髓运动神经元和周围神经引起的一种极其罕见的疾病。此外，在细胞骨架起动态作用的组织中，如心肌细胞，可能出现问题。在本研究中，我们报道了AGTPBP1基因中一个新的纯合错义(NM_015239: C . 2447a > C, p. Gln816Pro)变异，而C . 2447a > C变异从未在基因组聚集(gnomAD;v2.1.1)数据库，通过全外显子组测序鉴定了一例癫痫发作、肌张力障碍、扩张型心肌病(DCM)并伴有尾状核、壳核和小脑萎缩的患者。与文献中的其他病例不同，我们扩大了与AGTPBP1变异相关的表型，包括畸形特征、特发性DCM(可以通过支持治疗逆转)、癫痫发作模式和放射学表现。这些发现扩大了AGTPBP1基因突变和相关可能表现的范围。我们的研究可能有助于为未确诊的神经退行性疾病患者建立适当的遗传咨询和产前诊断。
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