Pediatric neurology最新文献

{"title":"Exploring the Efficacy and Safety of Vagus Nerve Stimulation for the Treatment of Epilepsy in Patients With Sturge-Weber Syndrome: A Pilot Study","authors":"Zizhang Cheng MM ,&nbsp;Weijin Sun MD ,&nbsp;Kaiqiang Ma MD ,&nbsp;Xiongfei Wang MD ,&nbsp;Junhong Pan MN ,&nbsp;Haowei Ma MM ,&nbsp;Xintao Peng MM ,&nbsp;Guoming Luan MD ,&nbsp;Yuguang Guan MD","doi":"10.1016/j.pediatrneurol.2024.12.016","DOIUrl":"10.1016/j.pediatrneurol.2024.12.016","url":null,"abstract":"<div><h3>Background</h3><div>Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder, often complicated by epilepsy. Approximately 50% of patients with SWS with epilepsy develop drug-resistant seizures, leaving limited treatment options. Vagus nerve stimulation (VNS) is a known therapy for refractory epilepsy, modulating neural activity to reduce seizures. This study examines the therapeutic outcomes, efficacy, and safety of VNS in five patients with SWS suffering from epilepsy.</div></div><div><h3>Methods</h3><div>A retrospective analysis of VNS treatment data from January 2021 to January 2022 in patients with SWS was conducted. Preoperative assessments included neuroimaging and video-electroencephalography monitoring. Cognitive function and quality of life were assessed using age-appropriate scales. VNS settings and seizure outcomes were recorded at different follow-up intervals. Seizure outcomes were classified using the modified Engel and McHugh classification. Cognitive function and quality of life were reassessed at two-year follow-up.</div></div><div><h3>Results</h3><div>Five patients, primarily pediatric, with seizure onset between age 0.5 and eight years, were included. After VNS therapy, all patients experienced a reduction in seizure frequency, with one patient becoming seizure free and three achieving a ≥50% reduction in seizures. Two children with cognitive impairments at baseline demonstrated cognitive improvements following treatment. All patients reported significant enhancements in quality of life. VNS was well tolerated, with no major adverse events reported.</div></div><div><h3>Conclusions</h3><div>VNS offers promising therapeutic benefits for epilepsy in patients with SWS, reducing seizure frequency, improving cognitive function in children, and enhancing quality of life with a favorable safety profile. Further research with larger sample sizes and control groups is warranted to validate efficacy and explore personalized treatment options.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 35-40"},"PeriodicalIF":3.2,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety and Efficacy of Fingolimod and Ocrelizumab in Pediatric Patients With Multiple Sclerosis","authors":"Benton Spirek BS ,&nbsp;J. Nicholas Brenton MD","doi":"10.1016/j.pediatrneurol.2024.12.015","DOIUrl":"10.1016/j.pediatrneurol.2024.12.015","url":null,"abstract":"<div><h3>Background</h3><div>Fingolimod and ocrelizumab are approved treatments for adults with multiple sclerosis (MS); however, only fingolimod is approved by the Food and Drug Administration for the treatment of pediatric MS. Currently, there are limited data for the safety and efficacy of ocrelizumab use in children.</div></div><div><h3>Methods</h3><div>This retrospective cohort study included patients with relapsing-remitting MS who started either ocrelizumab or fingolimod before age 18 years. Neuroimaging, electrocardiogram, laboratory evaluation, relapse history, and side effects were recorded at baseline and every six months.</div></div><div><h3>Results</h3><div>Thirty-six pediatric patients were included (fingolimod, n = 14; ocrelizumab, n = 22). Clinical relapses occurred in 14% of patients treated with fingolimod versus in none of the patients treated with ocrelizumab. Seventy-one percent of patients in the fingolimod group switched or discontinued therapy compared with 9% treated with ocrelizumab (<em>P</em> = 0.0001). From patients with greater than six months of treatment on the given therapy (fingolimod n = 10, ocrelizumab n = 17), 60% on fingolimod exhibited new/enlarged T2-hyperintense lesions on brain magnetic resonance imaging compared with 6% on ocrelizumab (<em>P</em> = 0.004). Of those treated with ocrelizumab, 10 of 22 (45%) had infusion reactions during their initial infusion. Reaction rates decreased to 20% with subsequent infusions.</div></div><div><h3>Conclusions</h3><div>Ocrelizumab is associated with fewer brain lesions, lower clinical relapse rates, and reduced discontinuation rates compared with fingolimod. Although both therapies have the potential for adverse effects, these are unlikely to prompt discontinuation of therapy in isolation. These findings highlight the benefits of ocrelizumab as a treatment option for children and youth living with MS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 89-96"},"PeriodicalIF":3.2,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(24)00402-8","DOIUrl":"10.1016/S0887-8994(24)00402-8","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143178970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review","authors":"Mahsa Mohammadi MSc ,&nbsp;Moez Ravanbod MSc ,&nbsp;Aida Ghasemi MSc ,&nbsp;Hadi Gharebaghian MD ,&nbsp;Shahriar Nafissi MD ,&nbsp;Afagh Alavi PhD","doi":"10.1016/j.pediatrneurol.2024.12.011","DOIUrl":"10.1016/j.pediatrneurol.2024.12.011","url":null,"abstract":"<div><h3>Background</h3><div>Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) is an ultrarare neurodegenerative disorder inherited in an autosomal recessive manner, mainly marked by progressive ataxia and axonal polyneuropathy. SCAN1 is mainly caused by the c.1478A&gt;G:p.His493Arg mutation in the <em>TDP1</em> gene. In this study, we present the first Iranian family, and the fifth family totally, diagnosed with the SCAN1, which carries the common variant c.1478A&gt;G. Additionally, we conducted a systematic review to identify all reported probably disease-related variants of <em>TDP1</em>.</div></div><div><h3>Methods</h3><div>Whole exome sequencing was performed on the proband, who was initially diagnosed with axonal neuropathy. The data were analyzed, and the variant was confirmed via Sanger sequencing. Cosegregation analysis was used to validate the variant within the family. Following PRISMA 2020 guidelines, we performed a systematic review using the terms <em>TDP1</em>, tyrosyl-DNA phosphodiesterase, SCAN1, and spinocerebellar ataxia with axonal neuropathy in four major databases.</div></div><div><h3>Results</h3><div>Whole exome sequencing results identified the known <em>TDP1</em>:c.1478A&gt;G variant, which correlated with the disease status in the family. Clinical and paraclinical findings were consistent with SCAN1. Our systematic review identified 16 variants in 20 families associated with various neurological or non-neurological disorders. Among these families, four were SCAN1. Although four of five families with SCAN1, including our family, shared the same <em>TDP1</em> variant, c.1478A&gt;G, they exhibited some clinical heterogeneity.</div></div><div><h3>Conclusions</h3><div>Given that all these cases were from the Middle East, we suggested this mutation may be a founder mutation in this region. Since only a few families with SCAN1 have been reported, further research is needed to fully understand this disorder.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 41-52"},"PeriodicalIF":3.2,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acupuncture for Prevention of Primary Headaches in Children and Adolescents: A Literature Overview for the Pediatric Neurologist","authors":"Alessia Raffagnato MD ,&nbsp;Maria Paola Rossaro MD ,&nbsp;Elena Piretti MD ,&nbsp;Laura Galdiolo MD ,&nbsp;Maria Federica Pelizza MD ,&nbsp;Stefano Sartori MD, PhD ,&nbsp;Margherita Nosadini MD, PhD ,&nbsp;Irene Toldo MD, PhD","doi":"10.1016/j.pediatrneurol.2024.12.013","DOIUrl":"10.1016/j.pediatrneurol.2024.12.013","url":null,"abstract":"<div><h3>Background</h3><div>To deepen the role of acupuncture as preventive treatment for pediatric primary headaches in children and adolescents and to understand if acupuncture is more effective than sham acupuncture or pharmacologic preventive treatment, acupuncture tolerability, and beneficial effect on psychiatric comorbidities.</div></div><div><h3>Methods</h3><div>A critical literature review was performed. Following PRISMA guidelines, all reports published (PubMed, 1982-2023) were considered. PICOS method was applied for paper selection. Efficacy measures were reduction of headache frequency, duration, and intensity compared with baseline, and, if available, with a control group. We also aimed to describe treatment protocols, the reason for choosing this treatment, patients' perception of acupuncture experience, and acupuncture's impact on headache comorbidity and general functioning.</div></div><div><h3>Results</h3><div>Five of 90 papers were selected, corresponding to a population of 229 children/adolescents (zero to 21 years). Among these, two controlled studies evaluated reduction of headache frequency, intensity, and duration.</div><div>True acupuncture versus placebo significantly reduced headache frequency (reduction of seven to eight headache days/month versus zero to one headache days/month, respectively), intensity on a visual analog scale (5.4 points compared with 1.6 points in placebo group), and headache duration. Tolerability data on acupuncture were favorable. Acupuncture experience was positively perceived by most patients, improved pain-related total interference in functioning, and reduced anxiety levels.</div></div><div><h3>Conclusions</h3><div>The few studies dealing with acupuncture as preventive treatment of pediatric primary headaches, despite their methodologic limitations, highlighted its efficacy. Further detailed studies are needed.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 22-30"},"PeriodicalIF":3.2,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatally Diagnosed Absent Septum Pellucidum and Septo-Optic Dysplasia: A Narrative Review and Practical Recommendations for Pediatric Neurologists","authors":"Charu Venkatesan MD, PhD ,&nbsp;Dawn Gano MD, MAS ,&nbsp;Barbara Scelsa MD ,&nbsp;Brigitte Vollmer MD, PhD ,&nbsp;Monica E. Lemmon MD ,&nbsp;Andrea C. Pardo MD ,&nbsp;Sarah B. Mulkey MD, PhD ,&nbsp;Tomo Tarui MD ,&nbsp;Mark Scher MD ,&nbsp;Anthony R. Hart MBChB, PhD ,&nbsp;Sonika Agarwal MBBS, MD","doi":"10.1016/j.pediatrneurol.2024.12.014","DOIUrl":"10.1016/j.pediatrneurol.2024.12.014","url":null,"abstract":"<div><div>Evaluation of the cavum septum pellucidum is required in standard second-trimester screening fetal anatomy ultrasound scans. The absence of septum pellucidum triggers further evaluation and referral for subspecialty counseling. Absence of septum pellucidum is linked to other midline anomalies including septo-optic dysplasia. The purpose of this narrative review on absent septum pellucidum and septo-optic dysplasia is to discuss the literature, including pre- and postnatal management and neurodevelopmental outcome, provide practical recommendations, and outline research gaps to advance this nascent field.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 17-24"},"PeriodicalIF":3.2,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preferred Parental Language and Neurodevelopmental Outcomes Among Infants With Acute Provoked Neonatal Seizures in the United States","authors":"Greta S. Peng MD ,&nbsp;Karin Halsey MPH ,&nbsp;Courtney J. Wusthoff MD, MS, MD ,&nbsp;Catherine J. Chu MD ,&nbsp;Shavonne L. Massey MD ,&nbsp;Monica E. Lemmon MD ,&nbsp;Cameron Thomas MD, MS ,&nbsp;Adam L. Numis MD ,&nbsp;Giulia M. Benedetti MD ,&nbsp;Julie Sturza MPH ,&nbsp;Elizabeth E. Rogers MD ,&nbsp;Linda S. Franck RN, PhD ,&nbsp;Charles E. McCulloch PhD ,&nbsp;Janet S. Soul MDCM ,&nbsp;Renée A. Shellhaas MD, MS ,&nbsp;Sonia L. Bonifacio MD ,&nbsp;Hannah C. Glass MD, MAS","doi":"10.1016/j.pediatrneurol.2024.12.010","DOIUrl":"10.1016/j.pediatrneurol.2024.12.010","url":null,"abstract":"<div><h3>Background</h3><div>Parental non-English language preference (NELP) is associated with worse pediatric health outcomes. However, little is known about its relationship with developmental outcomes in infants with neonatal seizures. This study evaluated the relationship between parental NELP and neurodevelopment in a multicenter cohort of infants with neonatal seizures.</div></div><div><h3>Methods</h3><div>Infants in the <em>Neonatal Seizure Registry</em>-II were included. Parental NELP was defined by the use of a professional interpreter for research consent and survey completion. The Warner Initial Developmental Evaluation of Adaptive and Functional Skills (WIDEA-FS) assessment was conducted at age 24 months. Multivariate regression was used to examine the association between parental NELP and WIDEA-FS. Functional developmental impairment was defined as a WIDEA-FS score 2 S.D.s below the normative mean.</div></div><div><h3>Results</h3><div>Among 270 infants with neonatal seizures, 15 (6%) had parental NELP. Children with parental NELP had a WIDEA-FS score that was on average 13 points lower than that of infants without parental NELP (95% confidence interval [CI]: −27 to 1, <em>P</em> = 0.08) and over five times the odds of functional developmental impairment (odds ratio 4.9, 95% CI: 1.3 to 18.4, <em>P</em> = 0.017).</div></div><div><h3>Conclusions</h3><div>Children with parental NELP were more likely to have functional developmental impairment at age 24 months when compared with children without parental NELP. Since parental NELP does not have a biologically plausible impact on neurodevelopment it likely reflects discriminatory experiences that affect developmental opportunities. These findings highlight the importance of identifying social drivers to decrease potential gaps in neurodevelopmental attainment for children with parental NELP.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 115-121"},"PeriodicalIF":3.2,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progressive loss of cerebral structures in ALG11-related congenital disorder of glycosylation","authors":"Olivier Fortin MD ,&nbsp;Gilbert Vezina MD ,&nbsp;David M. Steinhorn MD ,&nbsp;Sarah B. Mulkey MD, PhD","doi":"10.1016/j.pediatrneurol.2024.12.009","DOIUrl":"10.1016/j.pediatrneurol.2024.12.009","url":null,"abstract":"<div><h3>Background</h3><div>Congenital disorders of glycosylation (CDG) are a group of metabolic disorders related to dysfunctional glycoprotein and glycolipid biosynthesis. ALG11-related CDG is a rare member of this group, characterized by severe neurodevelopmental impairment, progressive microcephaly, sensorineural hearing loss, and epilepsy. The objective of this report is to provide an update on the phenotype and brain magnetic resonance imaging (MRI) at age seven years for a patient initially described in early infancy with fetal brain disruption sequence.</div></div><div><h3>Methods</h3><div>We provide an updated detailed clinical description of a seven-year-old male with ALG-11 CDG who underwent brain MRI at age seven years.</div></div><div><h3>Results</h3><div>Brain MRI at age seven years showed significant disease progression compared to the neonatal brain MRI. There was near complete loss of cerebral hemispheres, severe cerebellar atrophy, and decreased volume of the brainstem. The prior brain MRI (done at six weeks of age) had shown severe supratentorial volume loss but a relatively preserved cerebellum and brainstem at that time.</div></div><div><h3>Conclusions</h3><div>Reports on the natural history of rare conditions are important to improve our understanding of these conditions. ALG11-CDG is associated with atrophy and eventual vanishing of supratentorial brain structures, and infratentorial brain structures later in the disease process. The involvement of a pediatric palliative care service is a valuable adjunct to assist with symptom management and family support for these complex progressive conditions.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 7-9"},"PeriodicalIF":3.2,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parenting Stress in Tuberous Sclerosis Complex","authors":"Jenny Do MS, CGC ,&nbsp;Syed Hashmi MD, MPH, PhD ,&nbsp;Hope Northrup MD ,&nbsp;Laura S. Farach MD ,&nbsp;Deborah Pearson PhD ,&nbsp;Kate Richardson MS, CGC","doi":"10.1016/j.pediatrneurol.2024.12.006","DOIUrl":"10.1016/j.pediatrneurol.2024.12.006","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with clinical variability. As the needs of children with TSC may differ, parenting demands may similarly differ. Characterizing parenting stress, or emotional maladaptation from parenting duties, can enable health care providers to assist parents of children with TSC.</div></div><div><h3>Methods</h3><div>Multiple methods were used to survey 269 parents of children (aged zero to 12 years) with TSC. The Parenting Stress Index (PSI) measured parenting stress, and children's TSC clinical, seizure, and neuropsychiatric features were obtained. A qualitative free response item asked parents to describe significant parenting stressors for a child with TSC.</div></div><div><h3>Results</h3><div>Half of the participants achieved a clinically relevant PSI composite score with a high representation of the PSI subdomain, Parent-Child Dysfunction. Parents reported higher stress for children with certain skin and ocular TSC features, intractable epilepsy with or without status epilepticus, developmental delay or intellectual disability, TSC-associated neuropsychiatric disorders, and parent race and income. These variables accounted for 46% of PSI variability. Thematic analyses identified stressors consistent with survey findings and other novel constructs like uncertainty and a lack of personal or health care support.</div></div><div><h3>Conclusions</h3><div>These results could be used to improve parenting stress by counseling on the dermatologic and ophthalmologic TSC findings, anticipatory guidance on seizure symptoms, maximizing early childhood intervention or related therapies, and providing psychosocial assessment to all parents with a low threshold for referral to a mental health specialist. These considerations may ameliorate parenting stress and ultimately improve quality of life for families and patients with TSC.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 25-34"},"PeriodicalIF":3.2,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thick and Short Fetal Corpus Callosum on Ultrasound: Added Value of Fetal Magnetic Resonance Diffusion Tensor Imaging With Tractography","authors":"Shetal Desai MD ,&nbsp;Tushar Desai MD","doi":"10.1016/j.pediatrneurol.2024.12.007","DOIUrl":"10.1016/j.pediatrneurol.2024.12.007","url":null,"abstract":"<div><h3>Background</h3><div>Thick fetal corpus callosum (CC) is a rare finding and its significance in isolation is not clear. In this retrospective study, we aim to gain insight into the microarchitecture of CC in a cohort of fetuses with thick and short CC (isolated or associated with mild extra-/intracranial abnormalities) as seen on ultrasound (US), by using prenatal magnetic resonance (MR) diffusion tensor imaging (DTI) with fiber tractography, thereby allowing better characterization for postnatal prognosis.</div></div><div><h3>Methods</h3><div>Twelve fetuses met the inclusion criteria on US. The fetuses were further divided into group 1 (eight of twelve) with mild intra-/extracranial abnormalities or apparently isolated and group 2 (four of 12) with callosal lipoma (CL) on US. In all fetuses, both conventional MR imaging and DTI with tractography were done on 3T MRI.</div></div><div><h3>Results</h3><div>DTI fiber tractography showed an aberrant midline longitudinal supracallosal bundle (ASB) in all eight fetuses in group 1. Three of four fetuses in group 2 showed normal callosal architecture, and one showed an abnormal sigmoid bundle suggestive of partial agenesis of CC.</div></div><div><h3>Conclusions</h3><div>We have for the first time demonstrated an ASB on MR DTI with tractography in eight of 12 fetuses with thick and short CC (isolated or mild associated intra-/extracranial abnormalities). Postnatally, ASB is reported to be associated with abnormal neurodevelopmental outcomes even in isolation and hence is important in counseling and prognosis. In fetuses with CLs, DTI would demonstrate normal or abnormal callosal architecture which is obscured by echogenicity and help in counseling.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 10-16"},"PeriodicalIF":3.2,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}