Pub Date : 2024-12-20DOI: 10.1016/j.pediatrneurol.2024.12.008
Chloe Braun MD, Charli Cohen MD, Lece Webb MD
Wernicke encephalopathy is a well-described neurological complication of thiamine deficiency that is classically characterized by a triad of mental confusion, ophthalmoplegia, and gait ataxia. Although most commonly linked to alcoholism and thiamine deficiency in adults, it can present in pediatric patients. Wernicke encephalopathy presenting as dysnatremias is not well described. This report describes a developmentally delayed 21-month-old male with restrictive dietary habits who eventually developed focal neurological deficits. He was found to be hyponatremic consistent with syndrome of inappropriate antidiuretic hormone (SIADH). Additionally, he had brain magnetic resonance imaging findings consistent with Wernicke encephalopathy. He improved with thiamine administration and correction of his hyponatremia. His case highlights the importance of broadening the differential for altered mental status in the setting of SIADH. Similarly, his case provides an example for why primary care pediatricians should remain vigilant in caring for patients with developmental delay and restricted diets, as even rare complications are possible.
{"title":"Wernicke Encephalopathy Presenting With Syndrome of Inappropriate Antidiuretic Hormone","authors":"Chloe Braun MD, Charli Cohen MD, Lece Webb MD","doi":"10.1016/j.pediatrneurol.2024.12.008","DOIUrl":"10.1016/j.pediatrneurol.2024.12.008","url":null,"abstract":"<div><div>Wernicke encephalopathy is a well-described neurological complication of thiamine deficiency that is classically characterized by a triad of mental confusion, ophthalmoplegia, and gait ataxia. Although most commonly linked to alcoholism and thiamine deficiency in adults, it can present in pediatric patients. Wernicke encephalopathy presenting as dysnatremias is not well described. This report describes a developmentally delayed 21-month-old male with restrictive dietary habits who eventually developed focal neurological deficits. He was found to be hyponatremic consistent with syndrome of inappropriate antidiuretic hormone (SIADH). Additionally, he had brain magnetic resonance imaging findings consistent with Wernicke encephalopathy. He improved with thiamine administration and correction of his hyponatremia. His case highlights the importance of broadening the differential for altered mental status in the setting of SIADH. Similarly, his case provides an example for why primary care pediatricians should remain vigilant in caring for patients with developmental delay and restricted diets, as even rare complications are possible.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 4-6"},"PeriodicalIF":3.2,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142966166","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 : 2024-12-18DOI: 10.1016/j.pediatrneurol.2024.12.005
Kristen Barbour MD , Jennifer Friedman MD , Lynne M. Bird MD , Miguel Del Campo MD , Kristen Wigby MD , Marilyn Jones MD , Amy Chong MD , Zachary M. Grinspan MD, MS
{"title":"The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome","authors":"Kristen Barbour MD , Jennifer Friedman MD , Lynne M. Bird MD , Miguel Del Campo MD , Kristen Wigby MD , Marilyn Jones MD , Amy Chong MD , Zachary M. Grinspan MD, MS","doi":"10.1016/j.pediatrneurol.2024.12.005","DOIUrl":"10.1016/j.pediatrneurol.2024.12.005","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932586","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 : 2024-10-30DOI: 10.1016/j.pediatrneurol.2024.10.017
Syed Ameen Ahmad BS , John R. Gatti MD , Rachel K. Peterson PhD, NCSP , Noah Burton MHS , Laura A. Malone MD, PhD , Lisa R. Sun MD
Background
Little is known about quality of life, sleep, and mental health in children with moyamoya arteriopathy (MMA). A better understanding of patient-reported outcomes may lead to improved treatment.
Methods
Patients with MMA <26 years old and their caretakers completed validated, age-appropriate questionnaires including the Pediatric Quality of Life (PedsQL) Inventory and Patient-Reported Outcomes Measurement Information System (PROMIS) measuring health-related quality of life, sleep, anxiety, depression, and overall health.
Results
All 21 caretaker-proxies and eight of 21 patients with MMA completed questionnaires. Median age of participants with MMA was 7.8 years. The MMA cohort included 10 children with moyamoya disease and 11 with moyamoya syndrome, and 11 participants (52.4%) had a prior clinical stroke. Nine siblings unaffected by moyamoya and 20 participants with perinatal stroke were enrolled as comparator groups. Participants with MMA had greater impairment in school/work quality of life compared with normative values on caretaker and child-reported PedsQL surveys (85.5 vs 62.3 [P < 0.001] and 78.6 vs 51.2 [P = 0.017], respectively). Participants with MMA did not have significantly different physical impairment compared with normative values and siblings on caretaker and child-reported surveys. Caretaker-proxy PROMIS scores revealed high rates of moderate-severe anxiety (57.1% vs 25%, P < 0.001), sleep impairment (47.6% vs 25%, P = 0.017), and fair-poor global health (76.2% vs 25%, P < 0.001) in participants with MMA compared with the general population.
Conclusions
Patients with MMA have high rates of school/work impairment, anxiety, sleep impairment, and fair-poor global health. Screening for patient-reported outcomes, even in the absence of stroke or physical impairment, may improve treatment.
{"title":"Patient-Reported Outcomes in Childhood Moyamoya Arteriopathy","authors":"Syed Ameen Ahmad BS , John R. Gatti MD , Rachel K. Peterson PhD, NCSP , Noah Burton MHS , Laura A. Malone MD, PhD , Lisa R. Sun MD","doi":"10.1016/j.pediatrneurol.2024.10.017","DOIUrl":"10.1016/j.pediatrneurol.2024.10.017","url":null,"abstract":"<div><h3>Background</h3><div>Little is known about quality of life, sleep, and mental health in children with moyamoya arteriopathy (MMA). A better understanding of patient-reported outcomes may lead to improved treatment.</div></div><div><h3>Methods</h3><div>Patients with MMA <26 years old and their caretakers completed validated, age-appropriate questionnaires including the Pediatric Quality of Life (PedsQL) Inventory and Patient-Reported Outcomes Measurement Information System (PROMIS) measuring health-related quality of life, sleep, anxiety, depression, and overall health.</div></div><div><h3>Results</h3><div>All 21 caretaker-proxies and eight of 21 patients with MMA completed questionnaires. Median age of participants with MMA was 7.8 years. The MMA cohort included 10 children with moyamoya disease and 11 with moyamoya syndrome, and 11 participants (52.4%) had a prior clinical stroke. Nine siblings unaffected by moyamoya and 20 participants with perinatal stroke were enrolled as comparator groups. Participants with MMA had greater impairment in school/work quality of life compared with normative values on caretaker and child-reported PedsQL surveys (85.5 vs 62.3 [<em>P</em> < 0.001] and 78.6 vs 51.2 [<em>P</em> = 0.017], respectively). Participants with MMA did not have significantly different physical impairment compared with normative values and siblings on caretaker and child-reported surveys. Caretaker-proxy PROMIS scores revealed high rates of moderate-severe anxiety (57.1% vs 25%, <em>P</em> < 0.001), sleep impairment (47.6% vs 25%, <em>P</em> = 0.017), and fair-poor global health (76.2% vs 25%, <em>P</em> < 0.001) in participants with MMA compared with the general population.</div></div><div><h3>Conclusions</h3><div>Patients with MMA have high rates of school/work impairment, anxiety, sleep impairment, and fair-poor global health. Screening for patient-reported outcomes, even in the absence of stroke or physical impairment, may improve treatment.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 69-75"},"PeriodicalIF":3.2,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682414","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 : 2024-10-28DOI: 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}
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