Neuropediatrics最新文献_第9页

Colloid Cyst Causing Massive Headache Attacks. 胶体囊肿导致大规模头痛发作

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-02-05 DOI: 10.1055/s-0043-1778648

Malin Zaddach, Johanna Wagner, Mathias Kunz, Marco Paolini, Ingo Borggraefe, Florian Heinen

引用次数: 0

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature. ADPRHL2变异的界定：两名新患者的报告及文献综述

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-02-16 DOI: 10.1055/s-0044-1779618

Sibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper, Rahşan Göçmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu

{"title":"Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.","authors":"Sibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper, Rahşan Göçmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu","doi":"10.1055/s-0044-1779618","DOIUrl":"10.1055/s-0044-1779618","url":null,"abstract":"ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7-25) years, with the most common presenting symptoms being gait problems (n = 19, 40.4%), seizures (n = 16, 34%), ataxia (n = 13, 27.6%), and weakness (n = 10, 21.2%). Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% (n = 21) and 7 (2-34) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"156-165"},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. 一名患有智力障碍、全身性癫痫和青少年帕金森病的患者的同基因 PTRHD1 缺义变异（p.Arg122Gln）。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-01-29 DOI: 10.1055/a-2256-0722

Johannes Gebert, Theresa Brunet, Matias Wagner, Jakob Rath, Susanne Aull-Watschinger, Ekaterina Pataraia, Martin Krenn

引用次数: 0

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype. 与阉割性睾丸发育不良有关的 SON 基因新发杂合突变：一种新的表型。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2023-06-21 DOI: 10.1055/a-2114-4387

Ludovica Pasca, Davide Politano, Anna Cavallini, Elena Panzeri, Maria Cristina Vigone, Cristina Baldoli, Marco Abbate, Gaia Kullmann, Susan Marelli, Gabriella Pozzobon, Gaia Vincenzi, Renata Nacinovich, Maria Teresa Bassi, Romina Romaniello

{"title":"A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.","authors":"Ludovica Pasca, Davide Politano, Anna Cavallini, Elena Panzeri, Maria Cristina Vigone, Cristina Baldoli, Marco Abbate, Gaia Kullmann, Susan Marelli, Gabriella Pozzobon, Gaia Vincenzi, Renata Nacinovich, Maria Teresa Bassi, Romina Romaniello","doi":"10.1055/a-2114-4387","DOIUrl":"10.1055/a-2114-4387","url":null,"abstract":"Septo-optic dysplasia (SOD) syndrome is a rare congenital disorder characterized by a classic triad of optic nerve/chiasm hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis.Herein, we report the clinical case of 2-year-old boy presenting with psychomotor delay, nystagmus, congenital hypothyroidism, and a clinically relevant growth delay. The neuroradiological examination showed partial segmental agenesis of the corpus callosum, agenesis of the septum pellucidum, optic nerve hypoplasia, and a small pituitary gland with a small median pituitary stalk. A whole-exome sequencing analysis detected a novel heterozygous de novo variant c.1069_1070delAG in SON, predicted as likely pathogenic.To date, SON pathogenic variants have been described as responsible for Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a multisystemic neurodevelopmental disorder mainly characterized by intellectual disability, facial dysmorphisms, visual abnormalities, brain malformations, feeding difficulties, and growth delay. The herein described case is the first recognized clinic-radiological occurrence of SOD syndrome with hypothalamic-pituitary dysfunction in a patient carrying a SON gene variant, considered responsible of ZTTK syndrome, suggesting a possible relationship between SOD and SON gene alterations, never described so far, making the search for SON gene mutations advisable in patients with SOD.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"191-195"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9968084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-03-26 DOI: 10.1055/s-0044-1782675

Miraç Yıldırım, Gülçin Bilicen Yarenci, Mustafa Berk Genç, Çiğdem İlter Uçar, Secahattin Bayav, Merve Nur Tekin, Ömer Bektaş, Serap Teber

{"title":"VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.","authors":"Miraç Yıldırım, Gülçin Bilicen Yarenci, Mustafa Berk Genç, Çiğdem İlter Uçar, Secahattin Bayav, Merve Nur Tekin, Ömer Bektaş, Serap Teber","doi":"10.1055/s-0044-1782675","DOIUrl":"10.1055/s-0044-1782675","url":null,"abstract":"Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia. Brain magnetic resonance imaging at 20 months of age showed left focal cerebellar hypoplasia. Genetic analysis revealed a homozygous missense variant of c.202C > T (p.Arg68Ter) in the VAMP1 gene. Treatment with oral pyridostigmine was started, which resulted in mild improvement in muscle strength. Salbutamol syrup was added a few months later, but no significant improvement was observed. This case report presents novel findings such as focal cerebellar hypoplasia and nephrolithiasis in VAMP1-related CMS-25. Consequently, this case report extends the clinical spectrum. Further studies are needed to expand the genotype-phenotype correlations in VAMP1-related CMS-25.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"200-204"},"PeriodicalIF":1.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140294081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reliability and Validity of the Turkish Translation of the PedsQL™ 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy. 脊髓肌肉萎缩症 2-4 岁儿童 PedsQLTM 3.0 神经肌肉模块土耳其语译文的可靠性和有效性。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-06-01 Epub Date: 2024-03-15 DOI: 10.1055/a-2288-6383

Seval Kutlutürk Yıkılmaz, Müberra Tanrıverdi, Sedat Öktem

{"title":"Reliability and Validity of the Turkish Translation of the PedsQL™ 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy.","authors":"Seval Kutlutürk Yıkılmaz, Müberra Tanrıverdi, Sedat Öktem","doi":"10.1055/a-2288-6383","DOIUrl":"10.1055/a-2288-6383","url":null,"abstract":"Background: The Pediatric Quality of Life Inventory™ (PedsQL™) Neuromuscular Module (PedsQL™ 3.0 NM) evaluates the health-related quality of life in children who are affected by neuromuscular diseases. This study's aim is to assess the adaptation of the PedsQL™ 3.0 NM Turkish version (PedsQL™ 3.0 NM-TR) for 2- to 4-year-olds in spinal muscular atrophy (SMA).Methods: The procedure of translating the PedsQL™ 3.0 NM into Turkish was conducted in accordance with the translation methodology outlined by the PedsQL™ measurement model. The PedsQL™ 3.0 NM-TR was administered to 54 parents of children with SMA aged 2 to 4 years. The test-retest reliability and intraclass correlation coefficient (ICC) were measured for reliability analysis. Cronbach's α coefficient and item score correlations were calculated for internal consistency. Concurrent construct validity was evaluated by Pearson correlations between the outcomes of the PedsQL™ 4.0 Generic Core Scale (PedsQL™ 4.0 GCS) and the PedsQL™ 3.0 NM.Results: The PedsQL™ 3.0 NM-TR total score shows excellent reliability. The Cronbach's α values for the PedsQL™ 3.0 NM ranged between 0.871 and 0.906, while those for the PedsQL™ 4.0 GCS ranged between 0.843 and 0.897. Test-retest ICC values for the PedsQL™ 3.0 NM-TR ranged between 0.812 and 0.917, and for the PedsQL™ 4.0 GCS ranged between 0.773 and 0.899. The relationship between the PedsQL™ 3.0 NM-TR and the subscores of the PedsQL™ 4.0 GCS demonstrated a range of correlations from excellent to fair, indicating the interplay between two scales.Conclusion: This study established the PedsQL™ 3.0 NM-TR as reliable, valid, and feasible for use in children aged 2 to 4 years with SMA.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"171-177"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140137070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","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 Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood. SCA25相关基因的一种新的致病性变体，扩展了儿童早发性和进行性小脑共济失调的病因。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2023-11-07 DOI: 10.1055/a-2205-2402

Giulia Ferrera, Rossella Izzo, Daniele Ghezzi, Lorenzo Nanetti, Eleonora Lamantea, Anna Ardissone

{"title":"A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.","authors":"Giulia Ferrera, Rossella Izzo, Daniele Ghezzi, Lorenzo Nanetti, Eleonora Lamantea, Anna Ardissone","doi":"10.1055/a-2205-2402","DOIUrl":"10.1055/a-2205-2402","url":null,"abstract":"Spinocerebellar ataxias (SCAs) are heterogeneous autosomal dominant progressive ataxic disorders. SCA25 has been linked to PNPT1 pathogenic variants. Although pediatric onset is not unusual, to date only one patient with onset in the first years of life has been reported. This study presents an additional case, wherein symptoms emerged during the toddler phase, accompanied by the identification of a novel PNPT1 variant. The child was seen at 3 years because of frequent falls. Neurological examination revealed cerebellar signs and psychomotor delay. Brain MRI showed cerebellar atrophy (CA), cerebellar cortex, and dentate nuclei hyperintensities. Metabolic and genetic testing was inconclusive. At follow-up (age 6), the child had clinically and radiologically worsened; electroneurography (ENG) revealed axonal sensory neuropathy. Screening of genes associated with ataxias and mitochondrial disease identified a novel, heterozygous variant in PNPT1, which was probably pathogenic. This variant was also detected in the proband's mother and maternal grandmother, both asymptomatic, which aligns with the previously documented incomplete penetrance of heterozygous PNPT1 variants. Our study confirms that SCA25 can have onset in early childhood and characterizes natural history in pediatric cases: progressive cerebellar ataxia with sensory neuropathy, which manifests during the course of the disease. We report for the first time cerebellar gray matter hyperintensities, suggesting that SCA25 should be included in the differential diagnosis of cerebellar ataxias associated with such brain imaging features. In summary, SCA25 should be considered in the diagnostic workup of early onset pediatric progressive ataxias. Additionally, we confirm an incomplete penetrance and highly variable expressivity of PNPT1-associated SCA25.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"135-139"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71484374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007-2019. 2007-2019年奥地利福拉尔贝格州早产儿的精神运动和认知能力。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2023-12-29 DOI: 10.1055/a-2236-4003

Fabio Jenni, Karin Konzett, Stefanie Gang, Verena Sparr, Burkhard Simma

{"title":"Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007-2019.","authors":"Fabio Jenni, Karin Konzett, Stefanie Gang, Verena Sparr, Burkhard Simma","doi":"10.1055/a-2236-4003","DOIUrl":"10.1055/a-2236-4003","url":null,"abstract":"Aim: The aim of this study was to analyze neurodevelopmental outcome of very and extremely preterm infants in Vorarlberg, Austria, accessed with neurodevelopmental testing, at the corrected age of 24 months. This article also compared these results with (inter)national data and analyzed the impact of perinatal parameters.Methods: Population-based, retrospective multicenter study with data on very and extremely preterm infants born in Vorarlberg from 2007 to 2019 assessed with Bayley Scales of Infant Development (BSID-II/Bayley-III).Results: Included were 264 infants with a mean age of 29.0 (± 2.1) weeks of gestational age and a mean birth weight of 1177 (± 328.26) g; 172 infants underwent a BSID-II, 92 a Bayley-III assessment. The psychomotor developmental index (PDI) and mental developmental index (MDI) showed mean scores of 99.6 (± 14.4) and 91 (± 20.4), respectively. Adverse outcomes (scores <70) were assessed in 4.2% for PDI and 15.5% for MDI. In the extremely preterm group (n = 79), results for mean PDI were 100.1 (± 16.8) and for mean MDI 88.4 (± 22.4). Accordingly, adverse outcomes were assessed in 5.1% for PDI and in 20.3% for MDI. In addition to bronchopulmonary dysplasia and intraventricular hemorrhage Grade 3-4, head circumference at birth and patent ductus arteriosus were also identified as risk factors for poor outcome.Conclusion: This study showed a remarkably good neurodevelopmental outcome in preterm infants with low rates of adverse outcome, similar to (inter)national reports, especially in the group of extremely preterm infants. Research is needed to explore the role of social factors and infants' environment, especially cognitive outcome and language skills.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"90-96"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139074745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Assessment and Management of Childhood Masturbation: An Analysis of 90 Cases. 儿童手淫的评估与处理——附90例分析。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2023-10-12 DOI: 10.1055/a-2190-9604

Ayten Güleç, Selcan Öztürk, Hamit Acer, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per

{"title":"The Assessment and Management of Childhood Masturbation: An Analysis of 90 Cases.","authors":"Ayten Güleç, Selcan Öztürk, Hamit Acer, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per","doi":"10.1055/a-2190-9604","DOIUrl":"10.1055/a-2190-9604","url":null,"abstract":"Aim: The child's self-stimulating pleasure behavior is defined as childhood masturbation (CM). Diagnosis of CM is mainly based on behavior and analysis of video recordings. This study aims to investigate etiological factors, movement patterns, and treatment options.Medical records and video recordings of CM in our clinic between 2015 and 2020 were retrospectively reviewed.Results: Ninety patients aged 8 months to 9 years were included in our study. The male-to-female ratio was 23/67. The mean age at onset of masturbation (mean ± standard deviation) was 21.42 ± 18.44 (6-107) months. Note that 27.7% (32) of the patients were taking antiepileptic drugs before admission.Eight of the 90 patients had abnormal electroencephalograms. The time of onset of CM was related to cessation of breast milk in 24.4%, separation from the mother in 43.3%, new siblings in 16.6%, initiation of toilet training in 7.7%, and parental divorce in 6.6%. Behavioral therapy was sufficient in 71.1%. Hydroxyzine hydrochloride in 19 (21.1%) and risperidone in 9 (10%) were given in the remaining cases. Overall, 23/28 of the cases receiving medication improved during follow-up.Conclusion: Physicians may have difficulty identifying repetitive movements in CM. Misdiagnosis or delayed diagnosis may lead to unnecessary use of antiepileptic drugs, delayed initiation of treatment, and prolonged treatment duration. Video recordings are important in the differential diagnosis of CM. CM may have psychosocial causes and can often be effectively treated with behavioral therapy. Pharmacological treatment (hydroxyzine hydrochloride and risperidone) may be considered in cases that do not respond to behavioral treatment.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"104-111"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41207415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report. 小儿COVID-19疫苗接种后抗NMDA自身免疫性脑炎1例报告

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2023-11-16 DOI: 10.1055/a-2212-6936

Haila Alabssi, Nouf F Almulhim, Mohammed Al-Omari, Ayat H Safar

引用次数: 0