Pub Date : 2024-10-28DOI: 10.1016/j.pediatrneurol.2024.10.016
Margaret Shatara MD , Mohamed S. Abdelbaki MD
Background
Pediatric suprasellar tumors represent a unique and intricate challenge in the landscape of pediatric neuro-oncology.
Methods
We conducted an in-depth literature review, focusing on large clinical trials and major publications in pediatric suprasellar tumors, particularly craniopharyngiomas and germ cell tumors, to provide a comprehensive perspective on the challenges in the diagnosis, treatment, and molecular aspects of these tumors.
Results
Nestled within the critical confines of the suprasellar region, these tumors manifest against the backdrop of crucial growth and developmental processes. The suprasellar region, housing the pituitary gland and surrounding structures, plays a pivotal role in orchestrating hormonal regulation and growth. The emergence of tumors within this delicate terrain introduces a complex array of challenges, encompassing neurological, endocrinological, and developmental dimensions from damage to the hypothalamic-pituitary axis.
Conclusions
This article provides a thorough exploration of pediatric craniopharyngiomas and germ cell tumors, elucidating their clinical presentations, treatment modalities, and outcomes. The focused analysis aims to deepen our understanding of these tumors by offering insights for refined clinical management and improved patient outcomes.
{"title":"Pediatric Suprasellar Tumors: Unveiling the Mysteries of Craniopharyngioma and Germ Cell Tumors—Insights From Diagnosis to Advanced Therapeutics","authors":"Margaret Shatara MD , Mohamed S. Abdelbaki MD","doi":"10.1016/j.pediatrneurol.2024.10.016","DOIUrl":"10.1016/j.pediatrneurol.2024.10.016","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric suprasellar tumors represent a unique and intricate challenge in the landscape of pediatric neuro-oncology.</div></div><div><h3>Methods</h3><div>We conducted an in-depth literature review, focusing on large clinical trials and major publications in pediatric suprasellar tumors, particularly craniopharyngiomas and germ cell tumors, to provide a comprehensive perspective on the challenges in the diagnosis, treatment, and molecular aspects of these tumors.</div></div><div><h3>Results</h3><div>Nestled within the critical confines of the suprasellar region, these tumors manifest against the backdrop of crucial growth and developmental processes. The suprasellar region, housing the pituitary gland and surrounding structures, plays a pivotal role in orchestrating hormonal regulation and growth. The emergence of tumors within this delicate terrain introduces a complex array of challenges, encompassing neurological, endocrinological, and developmental dimensions from damage to the hypothalamic-pituitary axis.</div></div><div><h3>Conclusions</h3><div>This article provides a thorough exploration of pediatric craniopharyngiomas and germ cell tumors, elucidating their clinical presentations, treatment modalities, and outcomes. The focused analysis aims to deepen our understanding of these tumors by offering insights for refined clinical management and improved patient outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 55-68"},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676669","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}
Pub Date : 2024-10-26DOI: 10.1016/j.pediatrneurol.2024.10.014
Barbara Scelsa MD , Dawn Gano MD, MAS , Anthony R. Hart MBChB, PhD , Brigitte Vollmer MD, PhD , Monica E. Lemmon MD , Tomo Tarui MD , Sarah B. Mulkey MD, PhD , Mark Scher MD , Andrea C. Pardo MD , Sonika Agarwal MBBS, MD , Charu Venkatesan MD, PhD
Holoprosencephaly (HPE) is one of the most common malformations in embryonic development. HPE represents a continuum spectrum that involves the midline cleavage of forebrain structures. Facial malformations of varying degrees of severity are also observed. It is probable that HPE results from a combination of genetic mutations and environmental influences during the initial weeks of pregnancy. Some patients with HPE experience early death, whereas others go on to experience neurodevelopmental impairment. Accurate fetal imaging can facilitate diagnosis and prenatal counseling, although more subtle brain abnormalities can be difficult to diagnose prenatally. Fetal counseling can be complex, given that the etiopathogenesis remains unclear and variable penetrance is prevalent in inherited genetic mutations. The aim of this narrative review is to examine the literature on HPE and to offer recommendations for pediatric neurologists for fetal counseling and postnatal care.
{"title":"Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists","authors":"Barbara Scelsa MD , Dawn Gano MD, MAS , Anthony R. Hart MBChB, PhD , Brigitte Vollmer MD, PhD , Monica E. Lemmon MD , Tomo Tarui MD , Sarah B. Mulkey MD, PhD , Mark Scher MD , Andrea C. Pardo MD , Sonika Agarwal MBBS, MD , Charu Venkatesan MD, PhD","doi":"10.1016/j.pediatrneurol.2024.10.014","DOIUrl":"10.1016/j.pediatrneurol.2024.10.014","url":null,"abstract":"<div><div>Holoprosencephaly (HPE) is one of the most common malformations in embryonic development. HPE represents a continuum spectrum that involves the midline cleavage of forebrain structures. Facial malformations of varying degrees of severity are also observed. It is probable that HPE results from a combination of genetic mutations and environmental influences during the initial weeks of pregnancy. Some patients with HPE experience early death, whereas others go on to experience neurodevelopmental impairment. Accurate fetal imaging can facilitate diagnosis and prenatal counseling, although more subtle brain abnormalities can be difficult to diagnose prenatally. Fetal counseling can be complex, given that the etiopathogenesis remains unclear and variable penetrance is prevalent in inherited genetic mutations. The aim of this narrative review is to examine the literature on HPE and to offer recommendations for pediatric neurologists for fetal counseling and postnatal care.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 87-96"},"PeriodicalIF":3.2,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693111","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}
Pub Date : 2024-10-26DOI: 10.1016/j.pediatrneurol.2024.10.015
James Wheless MD, Sarah Weatherspoon MD
Dravet syndrome is a developmental and epileptic encephalopathy characterized by frequent, prolonged convulsive seizures and status epilepticus. Symptoms usually appear in the first year of life, and in addition to ongoing severe and intractable epilepsy, children with Dravet syndrome experience neurodevelopmental, behavioral, and motor impairments, along with high rates of mortality, especially in the first 12 years of life. Prompt diagnosis and initiation of treatment with broad-spectrum antiseizure medications are recommended to reduce seizure frequency and status epilepticus, and to potentially minimize the comorbidities associated with the epileptic encephalopathy. Stiripentol is an antiseizure medication approved for adjunctive use in Dravet syndrome in patients aged as young as six months. Data from randomized clinical trials and real-world studies demonstrate that stiripentol added to first-line therapy with clobazam and/or valproate is associated with high rates of seizure control, including freedom from status epilepticus, for extended periods of time including into adulthood. Stiripentol has multiple mechanisms of action and also inhibits several metabolic drug-metabolizing enzymes that can enhance the efficacy of coadministered antiseizure medications. Stiripentol is well tolerated, and treatment-emergent adverse events can often be managed by dose adjustments of comedications. This review updates the use of stiripentol in the modern era.
{"title":"Use of Stiripentol in Dravet Syndrome: A Guide for Clinicians","authors":"James Wheless MD, Sarah Weatherspoon MD","doi":"10.1016/j.pediatrneurol.2024.10.015","DOIUrl":"10.1016/j.pediatrneurol.2024.10.015","url":null,"abstract":"<div><div>Dravet syndrome is a developmental and epileptic encephalopathy characterized by frequent, prolonged convulsive seizures and status epilepticus. Symptoms usually appear in the first year of life, and in addition to ongoing severe and intractable epilepsy, children with Dravet syndrome experience neurodevelopmental, behavioral, and motor impairments, along with high rates of mortality, especially in the first 12 years of life. Prompt diagnosis and initiation of treatment with broad-spectrum antiseizure medications are recommended to reduce seizure frequency and status epilepticus, and to potentially minimize the comorbidities associated with the epileptic encephalopathy. Stiripentol is an antiseizure medication approved for adjunctive use in Dravet syndrome in patients aged as young as six months. Data from randomized clinical trials and real-world studies demonstrate that stiripentol added to first-line therapy with clobazam and/or valproate is associated with high rates of seizure control, including freedom from status epilepticus, for extended periods of time including into adulthood. Stiripentol has multiple mechanisms of action and also inhibits several metabolic drug-metabolizing enzymes that can enhance the efficacy of coadministered antiseizure medications. Stiripentol is well tolerated, and treatment-emergent adverse events can often be managed by dose adjustments of comedications. This review updates the use of stiripentol in the modern era.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 76-86"},"PeriodicalIF":3.2,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142688047","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}
Pub Date : 2024-10-22DOI: 10.1016/j.pediatrneurol.2024.10.010
Imad T. Jarjour MD , Laila K. Jarjour MB, ChB, MPH , Katherine Tran MD , Danita Czyzewski PhD
Background
Functional syncope, or psychogenic pseudosyncope, is often under-recognized. We aimed to show that functional syncope may be diagnosed in most pediatric patients by the initial neurological consultation.
Methods
We reviewed the medical records of patients who were evaluated from 2006 to 2022 in clinic for apparent transient loss of consciousness (a-TLOC) and probable functional syncope. Inclusion criteria included the following: (1) one or more episodes of a-TLOC; (2) spontaneous recovery; (3) age <19 years; (4) patients collapse or lie immobile andunresponsive to verbal stimulation; (5) normal or mildly increased heart rate and blood pressure, if assessed; (6) no other medical causes; and (7) episodes occurred during tilt, electroencephalography, or electrocardiogram or were seen by the author on a smartphone video or in clinic. Patients meeting criteria 1 to 7 were classified as “definite” functional syncope and those meeting criteria 1 to 6 as “probable” functional syncope.
Results
We identified 31 patients with a-TLOC: 26 (23 females) had functional syncope, aged six to 17 years, whereas five were excluded (two functional seizures, one temporal lobe epilepsy, one vasovagal syncope, and one asthma). The clinical features of 13 patients in each group (definite versus probable) were not different statistically. Episodes were prolonged (1 to 270 minutes, mean 58 minutes) and frequent (daily or weekly in 65%), with eyes closed in 71% and eye flutter in 27%. After mean follow-up of 15 months in 14 patients: episodes disappeared in 29%, decreased >50% in 36%, and remained the same in 36%.
Conclusions
Functional syncope can be diagnosed at the initial neurological consultation without additional diagnostic testing in most patients.
{"title":"Functional Syncope in Children and Adolescents: A Retrospective Cohort Study","authors":"Imad T. Jarjour MD , Laila K. Jarjour MB, ChB, MPH , Katherine Tran MD , Danita Czyzewski PhD","doi":"10.1016/j.pediatrneurol.2024.10.010","DOIUrl":"10.1016/j.pediatrneurol.2024.10.010","url":null,"abstract":"<div><h3>Background</h3><div>Functional syncope, or psychogenic pseudosyncope, is often under-recognized. We aimed to show that functional syncope may be diagnosed in most pediatric patients by the initial neurological consultation.</div></div><div><h3>Methods</h3><div>We reviewed the medical records of patients who were evaluated from 2006 to 2022 in clinic for apparent transient loss of consciousness (a-TLOC) and probable functional syncope. Inclusion criteria included the following: (1) one or more episodes of a-TLOC; (2) spontaneous recovery; (3) age <19 years; (4) patients collapse or lie immobile andunresponsive to verbal stimulation; (5) normal or mildly increased heart rate and blood pressure, if assessed; (6) no other medical causes; and (7) episodes occurred during tilt, electroencephalography, or electrocardiogram or were seen by the author on a smartphone video or in clinic. Patients meeting criteria 1 to 7 were classified as “definite” functional syncope and those meeting criteria 1 to 6 as “probable” functional syncope.</div></div><div><h3>Results</h3><div>We identified 31 patients with a-TLOC: 26 (23 females) had functional syncope, aged six to 17 years, whereas five were excluded (two functional seizures, one temporal lobe epilepsy, one vasovagal syncope, and one asthma). The clinical features of 13 patients in each group (definite versus probable) were not different statistically. Episodes were prolonged (1 to 270 minutes, mean 58 minutes) and frequent (daily or weekly in 65%), with eyes closed in 71% and eye flutter in 27%. After mean follow-up of 15 months in 14 patients: episodes disappeared in 29%, decreased >50% in 36%, and remained the same in 36%.</div></div><div><h3>Conclusions</h3><div>Functional syncope can be diagnosed at the initial neurological consultation without additional diagnostic testing in most patients.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 21-27"},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624838","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}
Pub Date : 2024-10-22DOI: 10.1016/j.pediatrneurol.2024.10.013
Kamile Uzun Akkaya PhD , Habip Eser Akkaya MD , Sabiha Bezgin PhD , Pelin Atalan Efkere PhD , Tuzun Firat PhD , Cemil Yildiz MD , Bulent Elbasan PhD
Background
Botulinum toxin (BoNT) injections are used to reduce spasticity, and sometimes repeated injections are required. The aim of this study is to investigate the effects of the number of BoNT injections into the gastrocnemius muscle on function, muscle morphology, muscle stiffness, and muscle vascularization in children with cerebral palsy (CP).
Methods
The study included 22 children with spastic-type CP aged five to 13 years who had previously received one, two, or three BoNT injections into the gastrocnemius muscle. A total of 29 gastrocnemius muscles were evaluated. Gastrocnemius muscle morphology was examined by ultrasonography, muscle stiffness by shear wave ultrasound elastography, and muscle vascularization by superb microvascular imaging. The functional status of the children was evaluated by the Gross Motor Function Measurement, the Timed-Up-and-Go Test, the Squat Test, the Vertical Jumping Test, and the Sit-and-Reach Test.
Results
In the motor functions and muscle morphology values were similar in all three groups (P > 0.05). Muscle stiffness values were higher (P = 0.035) and vascularization values were lower (P = 0.03) in the group that received three injections compared with the groups that received one injection. There was a moderate positive correlation of the number of BoNTs with muscle stiffness (P < 0.05, r = 0.454) and a moderate negative correlation with muscle vascularization (P < 0.05, r = −0.497).
Conclusions
Repeated BoNT applications have no effect on motor functions and muscle morphology in children with CP, whereas BoNT injections administered three times increase muscle stiffness and decrease vascularization.
{"title":"Long-Term Effects of Different Number of Botulinum Toxin Injections Into the Gastrocnemius Muscle on Function and Muscle Morphology in Children With Cerebral Palsy","authors":"Kamile Uzun Akkaya PhD , Habip Eser Akkaya MD , Sabiha Bezgin PhD , Pelin Atalan Efkere PhD , Tuzun Firat PhD , Cemil Yildiz MD , Bulent Elbasan PhD","doi":"10.1016/j.pediatrneurol.2024.10.013","DOIUrl":"10.1016/j.pediatrneurol.2024.10.013","url":null,"abstract":"<div><h3>Background</h3><div>Botulinum toxin (BoNT) injections are used to reduce spasticity, and sometimes repeated injections are required. The aim of this study is to investigate the effects of the number of BoNT injections into the gastrocnemius muscle on function, muscle morphology, muscle stiffness, and muscle vascularization in children with cerebral palsy (CP).</div></div><div><h3>Methods</h3><div>The study included 22 children with spastic-type CP aged five to 13 years who had previously received one, two, or three BoNT injections into the gastrocnemius muscle. A total of 29 gastrocnemius muscles were evaluated. Gastrocnemius muscle morphology was examined by ultrasonography, muscle stiffness by shear wave ultrasound elastography, and muscle vascularization by superb microvascular imaging. The functional status of the children was evaluated by the Gross Motor Function Measurement, the Timed-Up-and-Go Test, the Squat Test, the Vertical Jumping Test, and the Sit-and-Reach Test.</div></div><div><h3>Results</h3><div>In the motor functions and muscle morphology values were similar in all three groups (<em>P</em> > 0.05). Muscle stiffness values were higher (<em>P</em> = 0.035) and vascularization values were lower (<em>P</em> = 0.03) in the group that received three injections compared with the groups that received one injection. There was a moderate positive correlation of the number of BoNTs with muscle stiffness (<em>P</em> < 0.05, r = 0.454) and a moderate negative correlation with muscle vascularization (<em>P</em> < 0.05, r = −0.497).</div></div><div><h3>Conclusions</h3><div>Repeated BoNT applications have no effect on motor functions and muscle morphology in children with CP, whereas BoNT injections administered three times increase muscle stiffness and decrease vascularization.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 97-104"},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695768","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}
Pub Date : 2024-10-21DOI: 10.1016/j.pediatrneurol.2024.10.012
Zuhal Karali MD , Yasin Karali MD , Sukru Cekic MD , Berfin Altinok MD , Muhittin Bodur MD , Mustafa Bostanci MD , Sara S. Kilic MD
Background
DiGeorge syndrome (DGS), the most common microdeletion syndrome, affects multiple organs, including the heart, the nervous system, and the immune system. In this study, we aimed to evaluate the clinical, laboratory, brain magnetic resonance imaging (MRI), and neurocognitive findings of our patients with DGS.
Methods
Clinical and laboratory data of 52 patients with DGS between June 2000 and March 2022 were evaluated retrospectively. Brain MRI and neuropsychologic tests were performed to assess the neurocognitive status of the patients.
Results
Fifty-two patients (28 males and 24 females) were included in our study. Fifteen of them died during the follow-up. All 37 patients who are alive had partial DGS. The median age of patients was 10 years and 7 months, and the median age at diagnosis was 5 years and 4 months. Bilateral conduction deceleration in the anterior visual pathways in six (20%) of 30 patients was determined by the visual evoked potentials. The auditory brainstem evoked potential test showed sensorineural hearing loss in 11 of 30 (36.6%) patients. Brain MRI disclosed brain parenchymal abnormalities in 18 of 25 (72%) patients. Impairments in executive functions, expressive language, and verbal memory were noted in 18 patients who were neuropsychologically assessed.
Conclusions
It is important to keep in mind that patients with DGS may be accompanied by neurocognitive findings. Awareness of the potential for underlying psychiatric and neurodevelopment disorders is key to anticipatory guidance, optimization of therapies, and maximizing life quality.
{"title":"Neurocognitive Evaluation of Patients With DiGeorge Syndrome","authors":"Zuhal Karali MD , Yasin Karali MD , Sukru Cekic MD , Berfin Altinok MD , Muhittin Bodur MD , Mustafa Bostanci MD , Sara S. Kilic MD","doi":"10.1016/j.pediatrneurol.2024.10.012","DOIUrl":"10.1016/j.pediatrneurol.2024.10.012","url":null,"abstract":"<div><h3>Background</h3><div>DiGeorge syndrome (DGS), the most common microdeletion syndrome, affects multiple organs, including the heart, the nervous system, and the immune system. In this study, we aimed to evaluate the clinical, laboratory, brain magnetic resonance imaging (MRI), and neurocognitive findings of our patients with DGS.</div></div><div><h3>Methods</h3><div>Clinical and laboratory data of 52 patients with DGS between June 2000 and March 2022 were evaluated retrospectively. Brain MRI and neuropsychologic tests were performed to assess the neurocognitive status of the patients.</div></div><div><h3>Results</h3><div>Fifty-two patients (28 males and 24 females) were included in our study. Fifteen of them died during the follow-up. All 37 patients who are alive had partial DGS. The median age of patients was 10 years and 7 months, and the median age at diagnosis was 5 years and 4 months. Bilateral conduction deceleration in the anterior visual pathways in six (20%) of 30 patients was determined by the visual evoked potentials. The auditory brainstem evoked potential test showed sensorineural hearing loss in 11 of 30 (36.6%) patients. Brain MRI disclosed brain parenchymal abnormalities in 18 of 25 (72%) patients. Impairments in executive functions, expressive language, and verbal memory were noted in 18 patients who were neuropsychologically assessed.</div></div><div><h3>Conclusions</h3><div>It is important to keep in mind that patients with DGS may be accompanied by neurocognitive findings. Awareness of the potential for underlying psychiatric and neurodevelopment disorders is key to anticipatory guidance, optimization of therapies, and maximizing life quality.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 40-46"},"PeriodicalIF":3.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624839","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}
Pub Date : 2024-10-18DOI: 10.1016/j.pediatrneurol.2024.10.009
Hope M. Reecher BS , Niyati P. Mehta MD , Namrata D. Patel MD, MS , Rachel A. Sawdy DNP , Raquel Farias-Moeller MD
Background
New-onset refractory status epilepticus (NORSE) is a clinical presentation characterized by explosive-onset refractory status epilepticus (RSE) without evident etiology or active epilepsy, often leading to devastating epilepsy. There is heterogeneity in neuroradiographic findings for NORSE. We encountered a series of young patients with NORSE who had diffuse cerebral restriction in diffusion (DCRD) with similar radiographic appearances as acute encephalopathy with biphasic seizures and late restricted diffusion/acute leukoencephalopathy with restricted diffusion (AESD/ALERD). We explore clinical similarities and proposed pathophysiologic overlaps to highlight a novel clinical-radiologic presentation.
Methods
Retrospective review was completed for patients younger than five years meeting NORSE criteria and then screened for radiographic evidence of DCRD. Demographic, clinical, and outcome data were collected.
Results
Eleven patients met NORSE criteria, of whom seven displayed DCRD. Immunosuppressant management varied. All patients required multiple antiseizure medications and continuous infusions for RSE. Only one had an etiology identified (genetic). All but one patient developed diffuse, global, and progressive cerebral atrophy. Two patients died: one after prolonged seizure three years post-NORSE and another of unknown causes two months post-NORSE. Of five survivors, three have medically refractory epilepsy. Most survivors have severe disability.
Conclusions
We present a single-center case series of seven patients with NORSE and DCRD, akin to AESD/ALERD. Our patients differed clinically to AESD/ALERD in terms of seizure severity and poorer outcome. There is a need to develop biomarkers for specific NORSE phenotypes. The young child with NORSE and DCRD may represent a novel phenotype with a specific neuroradiographic signature that deserves further attention.
{"title":"New-Onset Refractory Status Epilepticus With Diffuse Cerebral Restricted Diffusion in Young Children: A Novel Clinical-Radiologic Presentation","authors":"Hope M. Reecher BS , Niyati P. Mehta MD , Namrata D. Patel MD, MS , Rachel A. Sawdy DNP , Raquel Farias-Moeller MD","doi":"10.1016/j.pediatrneurol.2024.10.009","DOIUrl":"10.1016/j.pediatrneurol.2024.10.009","url":null,"abstract":"<div><h3>Background</h3><div>New-onset refractory status epilepticus (NORSE) is a clinical presentation characterized by explosive-onset refractory status epilepticus (RSE) without evident etiology or active epilepsy, often leading to devastating epilepsy. There is heterogeneity in neuroradiographic findings for NORSE. We encountered a series of young patients with NORSE who had diffuse cerebral restriction in diffusion (DCRD) with similar radiographic appearances as acute encephalopathy with biphasic seizures and late restricted diffusion/acute leukoencephalopathy with restricted diffusion (AESD/ALERD). We explore clinical similarities and proposed pathophysiologic overlaps to highlight a novel clinical-radiologic presentation.</div></div><div><h3>Methods</h3><div>Retrospective review was completed for patients younger than five years meeting NORSE criteria and then screened for radiographic evidence of DCRD. Demographic, clinical, and outcome data were collected.</div></div><div><h3>Results</h3><div>Eleven patients met NORSE criteria, of whom seven displayed DCRD. Immunosuppressant management varied. All patients required multiple antiseizure medications and continuous infusions for RSE. Only one had an etiology identified (genetic). All but one patient developed diffuse, global, and progressive cerebral atrophy. Two patients died: one after prolonged seizure three years post-NORSE and another of unknown causes two months post-NORSE. Of five survivors, three have medically refractory epilepsy. Most survivors have severe disability.</div></div><div><h3>Conclusions</h3><div>We present a single-center case series of seven patients with NORSE and DCRD, akin to AESD/ALERD. Our patients differed clinically to AESD/ALERD in terms of seizure severity and poorer outcome. There is a need to develop biomarkers for specific NORSE phenotypes. The young child with NORSE and DCRD may represent a novel phenotype with a specific neuroradiographic signature that deserves further attention.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 47-54"},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625004","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}
Pub Date : 2024-10-18DOI: 10.1016/j.pediatrneurol.2024.10.007
Racha Tohme MD , Anca Tanase MD , Cécile Dumaine MD , Perrine Dusser MD , Homa Adle-Biassette MD, PhD , Veronique Despert MD , Albert Faye MD, PhD , Inès Mannes MD , Isabelle Melki MD, PhD , Isabelle Kone-Paut MD, PhD , Ulrich Meinzer MD, PhD , SOFREMIP, French Society for Rheumatology and Pediatric Inflammatory Diseases
Background
The diagnosis and management of neurosarcoidosis (NS) in pediatric patients remain challenging, with limited case documentation to guide clinicians. Most existing reports focus on initial presentations. This study aimed to outline the clinical features, management, and medium-term outcomes of pediatric NS
Methods
In this retrospective, multicentric, observational study, we collected data from pediatric patients followed in French pediatric rheumatology centers with a diagnosis of NS between January 2001 and June 2023.
Results
We identified 11 patients diagnosed with NS, comprising eight girls and three boys. The mean age at diagnosis of sarcoidosis was 10 (5 to 15) years, and the mean age of diagnosis of NS was 11.5 (5 to 17) years. Predominant neurological symptoms included headache (nine of 11 patients), papilledema (6 of 11 patients), facial palsy (two patients), seizures (one patient), and motor deficit (two patients). Nine of 11 patients had eye involvement, which consisted of granulomatous and bilateral uveitis. All patients exhibited meningitis, with cerebrospinal fluid white blood cell counts ranging from 6 to 70 cells/mm3. Six individuals presented neurological abnormalities on imaging, detailed in this study. Treatment primarily involved corticosteroids, methotrexate, and tumor necrosis factor alpha (TNF-alpha) inhibitors. Biologics targeting TNF-alpha were necessary to achieve remission in eight of 11 patients. In two patients who did not receive this treatment initially, it was required later in the course of evolution.
Conclusions
This study enhances understanding of the clinical course of pediatric NS and supports the early use of TNF-alpha biologics for improved management in affected children.
{"title":"Diagnostic and Therapeutic Insights Into Pediatric Neurosarcoidosis: Observations From French Pediatric Rheumatology Centers","authors":"Racha Tohme MD , Anca Tanase MD , Cécile Dumaine MD , Perrine Dusser MD , Homa Adle-Biassette MD, PhD , Veronique Despert MD , Albert Faye MD, PhD , Inès Mannes MD , Isabelle Melki MD, PhD , Isabelle Kone-Paut MD, PhD , Ulrich Meinzer MD, PhD , SOFREMIP, French Society for Rheumatology and Pediatric Inflammatory Diseases","doi":"10.1016/j.pediatrneurol.2024.10.007","DOIUrl":"10.1016/j.pediatrneurol.2024.10.007","url":null,"abstract":"<div><h3>Background</h3><div>The diagnosis and management of neurosarcoidosis (NS) in pediatric patients remain challenging, with limited case documentation to guide clinicians. Most existing reports focus on initial presentations. This study aimed to outline the clinical features, management, and medium-term outcomes of pediatric NS</div></div><div><h3>Methods</h3><div>In this retrospective, multicentric, observational study, we collected data from pediatric patients followed in French pediatric rheumatology centers with a diagnosis of NS between January 2001 and June 2023.</div></div><div><h3>Results</h3><div>We identified 11 patients diagnosed with NS, comprising eight girls and three boys. The mean age at diagnosis of sarcoidosis was 10 (5 to 15) years, and the mean age of diagnosis of NS was 11.5 (5 to 17) years. Predominant neurological symptoms included headache (nine of 11 patients), papilledema (6 of 11 patients), facial palsy (two patients), seizures (one patient), and motor deficit (two patients). Nine of 11 patients had eye involvement, which consisted of granulomatous and bilateral uveitis. All patients exhibited meningitis, with cerebrospinal fluid white blood cell counts ranging from 6 to 70 cells/mm<sup>3</sup>. Six individuals presented neurological abnormalities on imaging, detailed in this study. Treatment primarily involved corticosteroids, methotrexate, and tumor necrosis factor alpha (TNF-alpha) inhibitors. Biologics targeting TNF-alpha were necessary to achieve remission in eight of 11 patients. In two patients who did not receive this treatment initially, it was required later in the course of evolution.</div></div><div><h3>Conclusions</h3><div>This study enhances understanding of the clinical course of pediatric NS and supports the early use of TNF-alpha biologics for improved management in affected children.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 12-20"},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605756","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}
Alice in Wonderland syndrome (AIWS) is a disorienting neurological condition that affects human perception to the senses of vision, hearing, touch, and sensation and the phenomenon of time. Herein we report two pediatric cases of AIWS temporally related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.
Case presentation
An eight-year-old-girl without history of migraine or epilepsy experienced some episodes of visual distortions (micropsia, macropsia, and teleopsia) and misperception of sound, sometimes associated with headache. The onset of symptoms began at the occurrence of fever (38°C), during SARS-CoV-2 infection. Another six-year-old girl, with no history of migraine or epilepsy, experienced short-term episodes of visual (metamorphopsia) and color disturbance (chromatopsia), during an otherwise asymptomatic SARS-CoV-2 infection. In both cases, clinical examination was unremarkable; surface electroencephalography showed normal findings, without any correlation between visual phenomena and cortical activity; and brain magnetic resonance was normal. The patients were given symptomatic treatment, consisting of anti-inflammatory drugs on demand. The frequency of episodes decreased progressively following a negative SARS-CoV-2 test, with full remission in a few weeks. At the moment of hospital admission, none of the patients had completed the two-dose vaccination schedule for SARS-CoV-2.
Conclusion
Based on our clinical experience, we believe SARS-CoV-2 may be responsible for AIWS, in addition to other neurological symptoms more frequently documented in the literature. Pathogenesis is multifactorial and arises from the activation of inflammatory pathways. We therefore suggest also searching for SARS-CoV-2, among other viruses linked with AIWS, in children presenting with visual and/or auditory hallucinations, even as isolated symptoms.
{"title":"Alice in Wonderland Syndrome in Children With Severe Acute Respiratory Syndrome SARS-CoV-2 Infection: A Case Series of Two Patients in an Italian Hospital","authors":"Susanna Staccioli MD, PhD , Rosanna Mariani MD, PhD , Sarah Bompard MD , Nicole Olivini MD , Claudia Fanfoni MD , Gianluca Mirra MD , Eleonora Bisozzi TNFP , Andrea Campana MD , Donatella Lettori MD, PhD","doi":"10.1016/j.pediatrneurol.2024.10.008","DOIUrl":"10.1016/j.pediatrneurol.2024.10.008","url":null,"abstract":"<div><h3>Background</h3><div>Alice in Wonderland syndrome (AIWS) is a disorienting neurological condition that affects human perception to the senses of vision, hearing, touch, and sensation and the phenomenon of time. Herein we report two pediatric cases of AIWS temporally related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.</div></div><div><h3>Case presentation</h3><div>An eight-year-old-girl without history of migraine or epilepsy experienced some episodes of visual distortions (micropsia, macropsia, and teleopsia) and misperception of sound, sometimes associated with headache. The onset of symptoms began at the occurrence of fever (38°C), during SARS-CoV-2 infection. Another six-year-old girl, with no history of migraine or epilepsy, experienced short-term episodes of visual (metamorphopsia) and color disturbance (chromatopsia), during an otherwise asymptomatic SARS-CoV-2 infection. In both cases, clinical examination was unremarkable; surface electroencephalography showed normal findings, without any correlation between visual phenomena and cortical activity; and brain magnetic resonance was normal. The patients were given symptomatic treatment, consisting of anti-inflammatory drugs on demand. The frequency of episodes decreased progressively following a negative SARS-CoV-2 test, with full remission in a few weeks. At the moment of hospital admission, none of the patients had completed the two-dose vaccination schedule for SARS-CoV-2.</div></div><div><h3>Conclusion</h3><div>Based on our clinical experience, we believe SARS-CoV-2 may be responsible for AIWS, in addition to other neurological symptoms more frequently documented in the literature. Pathogenesis is multifactorial and arises from the activation of inflammatory pathways. We therefore suggest also searching for SARS-CoV-2, among other viruses linked with AIWS, in children presenting with visual and/or auditory hallucinations, even as isolated symptoms.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 28-31"},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624815","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}
Pub Date : 2024-10-12DOI: 10.1016/j.pediatrneurol.2024.10.005
Prateek Kumar Panda DM, Indar Kumar Sharawat DM
{"title":"Effect of Piracetam and Iron Supplementation on Heart Rate Variability in Children With Breath-Holding Spells: Effective Treatment or Placebo?","authors":"Prateek Kumar Panda DM, Indar Kumar Sharawat DM","doi":"10.1016/j.pediatrneurol.2024.10.005","DOIUrl":"10.1016/j.pediatrneurol.2024.10.005","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Page 262"},"PeriodicalIF":3.2,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142538017","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}
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