Annie E. Richard, Ingrid E. Scheffer, Sarah J. Wilson
Objective
We conducted deep and minimal phenotyping of the broader autism phenotype (BAP) in people with epilepsy (PWE) and compared its expression with published rates in the general population and relatives of individuals with autism spectrum disorder (ASD-relatives). We then examined the association of clinical epilepsy variables with BAP expression to explore its underpinnings in PWE.
Methods
103 adults with seizures (Mage = 37.37, SD = 12.50; 47% males; 51 temporal lobe epilepsy, 40 genetic generalized epilepsy, 12 other) and 58 community members (Mage = 39.59, SD = 14.56; 35% males) underwent deep phenotyping using the observer-rated Autism Endophenotype Interview and minimal phenotyping with the Broader Autism Phenotype Questionnaire (BAPQ). Published rates of the BAP were ascertained from large randomly selected samples (n > 100) of the general population and ASD-relatives based on BAPQ data.
Results
There was a higher rate of BAP in PWE (15% males, 27% females) compared with the general population (5% males, 7% females) and a similar rate to ASD-relatives (9% males, 20% females). Deep phenotyping identified an additional 22 males and 10 females, with the combined measures indicating elevated rates of the BAP in PWE (44% males, 36% females). Only a shorter duration of epilepsy was weakly correlated with BAP trait expression in males (r = − 0.21, p = 0.05).
Interpretation
PWE have a high rate of BAP, largely unrelated to secondary clinical epilepsy effects. The BAP may provide a trans-diagnostic marker of shared etiological mechanisms of epilepsy and ASD and partly account for psychosocial difficulties faced by PWE with childhood or adult onset of seizures.
{"title":"Deep Phenotyping of the Broader Autism Phenotype in Epilepsy: A Transdiagnostic Marker of Epilepsy and Autism Spectrum Disorder","authors":"Annie E. Richard, Ingrid E. Scheffer, Sarah J. Wilson","doi":"10.1002/cns3.20104","DOIUrl":"https://doi.org/10.1002/cns3.20104","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We conducted deep and minimal phenotyping of the broader autism phenotype (BAP) in people with epilepsy (PWE) and compared its expression with published rates in the general population and relatives of individuals with autism spectrum disorder (ASD-relatives). We then examined the association of clinical epilepsy variables with BAP expression to explore its underpinnings in PWE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>103 adults with seizures (<i>M</i><sub>age</sub> = 37.37, SD = 12.50; 47% males; 51 temporal lobe epilepsy, 40 genetic generalized epilepsy, 12 other) and 58 community members (<i>M</i><sub>age</sub> = 39.59, SD = 14.56; 35% males) underwent deep phenotyping using the observer-rated Autism Endophenotype Interview and minimal phenotyping with the Broader Autism Phenotype Questionnaire (BAPQ). Published rates of the BAP were ascertained from large randomly selected samples (<i>n</i> > 100) of the general population and ASD-relatives based on BAPQ data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There was a higher rate of BAP in PWE (15% males, 27% females) compared with the general population (5% males, 7% females) and a similar rate to ASD-relatives (9% males, 20% females). Deep phenotyping identified an additional 22 males and 10 females, with the combined measures indicating elevated rates of the BAP in PWE (44% males, 36% females). Only a shorter duration of epilepsy was weakly correlated with BAP trait expression in males (<i>r</i> = − 0.21, <i>p</i> = 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>PWE have a high rate of BAP, largely unrelated to secondary clinical epilepsy effects. The BAP may provide a trans-diagnostic marker of shared etiological mechanisms of epilepsy and ASD and partly account for psychosocial difficulties faced by PWE with childhood or adult onset of seizures.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"78-90"},"PeriodicalIF":0.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20104","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michael E. Baumgartner, Sudha Kessler, Kathleen Galligan, James E. Baumgartner, Benjamin C. Kennedy
Background
Hemispherectomy and hemispherotomy represent well-established treatments for drug-resistant hemispheric epilepsy. An alternative endovascular procedure has been explored for cases with challenging surgical anatomy, which seeks to achieve the clinical effect of hemispherectomy via embolization of the major cerebral arteries and subsequent hemispheric infarction. Neither the safety nor effectiveness of this procedure has been established.
Patient Description
A 4-month-old girl with a history of drug-resistant focal epilepsy due to left-sided hemimegalecephaly previously treated with endovascular hemispherectomy at another institution presented for surgical evaluation due to ongoing electroclinical seizures despite multiple antiseizure medications. Pre-operative magnetic resonance imaging (MRI) revealed viable tissue, including mesial temporal structures, and a salvage hemispherotomy was performed. The embolized cortex was surprisingly well-perfused intra-operatively. Postoperatively, she has had no further seizures at 1-year follow-up.
Conclusion
Embolization of the three large hemispheric arteries achieved neither complete hemispheric destruction nor complete disconnection in this case and did not resolve the patient's seizures, necessitating salvage hemispherotomy. While it is difficult to draw definitive conclusions from a single patient's course, our experience suggests that endovascular hemispheric destruction may not be an effective substitute for surgical hemispherectomy or hemispherotomy.
{"title":"Salvage Trans-Sylvian Peri-Insular Hemispherotomy After Embolic Hemispherectomy","authors":"Michael E. Baumgartner, Sudha Kessler, Kathleen Galligan, James E. Baumgartner, Benjamin C. Kennedy","doi":"10.1002/cns3.70003","DOIUrl":"https://doi.org/10.1002/cns3.70003","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hemispherectomy and hemispherotomy represent well-established treatments for drug-resistant hemispheric epilepsy. An alternative endovascular procedure has been explored for cases with challenging surgical anatomy, which seeks to achieve the clinical effect of hemispherectomy via embolization of the major cerebral arteries and subsequent hemispheric infarction. Neither the safety nor effectiveness of this procedure has been established.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient Description</h3>\u0000 \u0000 <p>A 4-month-old girl with a history of drug-resistant focal epilepsy due to left-sided hemimegalecephaly previously treated with endovascular hemispherectomy at another institution presented for surgical evaluation due to ongoing electroclinical seizures despite multiple antiseizure medications. Pre-operative magnetic resonance imaging (MRI) revealed viable tissue, including mesial temporal structures, and a salvage hemispherotomy was performed. The embolized cortex was surprisingly well-perfused intra-operatively. Postoperatively, she has had no further seizures at 1-year follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Embolization of the three large hemispheric arteries achieved neither complete hemispheric destruction nor complete disconnection in this case and did not resolve the patient's seizures, necessitating salvage hemispherotomy. While it is difficult to draw definitive conclusions from a single patient's course, our experience suggests that endovascular hemispheric destruction may not be an effective substitute for surgical hemispherectomy or hemispherotomy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"110-114"},"PeriodicalIF":0.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144300199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Juliana Wall, Gillian N. Miller, Joseph J. Taylor, Jacob L. Stubbs, Simon K. Warfield, Alexander L. Cohen
Objective
Attention-deficit/hyperactivity disorder (ADHD) has been associated with decreased regional brain volume, yet no consistent localization has emerged across studies. This discrepancy has been attributed to ADHD's diagnostic heterogeneity; however, one alternative is that ADHD is associated with alterations of brain networks, not individual regions. To test this hypothesis, we compared a traditional anatomic likelihood estimate (ALE) with a “coordinate network mapping” (CNM) approach using data from 38 studies comparing regional brain volumes in ADHD versus healthy controls.
Methods
We performed an ALE analysis, determining above-chance convergence between experiments. Next, we calculated the overlap with the putamen and default mode network, defined a priori. We then applied CNM, generating connectivity maps for each study and statistically comparing these maps to identify common areas of connectivity across studies. Finally, we compared the network map of ADHD with several control groups of neuropsychiatric disorders and with randomly generated coordinates.
Results
ALE identified no significant spatial convergence between experiments. We also found only limited spatial overlap with the default mode network and weak functional connectivity with the putamen. Conversely, CNM revealed that the heterogenous coordinates fell within a consistent brain network characterized by connectivity with the reward and cingulo-opercular “action mode” networks. However, we could not differentiate this network from the CNM-derived networks in control groups.
Interpretation
Although this network is biologically plausible and consistent with ADHD symptoms, the findings suggest that this network is not specific to ADHD and may reflect large-scale brain networks. Although this meta-analysis adds to the literature on the neurobiology of ADHD, the nonspecific findings convey the importance of studying ADHD at the symptom level.
{"title":"Coordinate Network Mapping of Focal Brain Volume Differences in ADHD Reveals Common Patterns That Lack Specificity: A Systematic Review","authors":"Juliana Wall, Gillian N. Miller, Joseph J. Taylor, Jacob L. Stubbs, Simon K. Warfield, Alexander L. Cohen","doi":"10.1002/cns3.20108","DOIUrl":"https://doi.org/10.1002/cns3.20108","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Attention-deficit/hyperactivity disorder (ADHD) has been associated with decreased regional brain volume, yet no consistent localization has emerged across studies. This discrepancy has been attributed to ADHD's diagnostic heterogeneity; however, one alternative is that ADHD is associated with alterations of brain networks, not individual regions. To test this hypothesis, we compared a traditional anatomic likelihood estimate (ALE) with a “coordinate network mapping” (CNM) approach using data from 38 studies comparing regional brain volumes in ADHD versus healthy controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed an ALE analysis, determining above-chance convergence between experiments. Next, we calculated the overlap with the putamen and default mode network, defined a priori. We then applied CNM, generating connectivity maps for each study and statistically comparing these maps to identify common areas of connectivity across studies. Finally, we compared the network map of ADHD with several control groups of neuropsychiatric disorders and with randomly generated coordinates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>ALE identified no significant spatial convergence between experiments. We also found only limited spatial overlap with the default mode network and weak functional connectivity with the putamen. Conversely, CNM revealed that the heterogenous coordinates fell within a consistent brain network characterized by connectivity with the reward and cingulo-opercular “action mode” networks. However, we could not differentiate this network from the CNM-derived networks in control groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Although this network is biologically plausible and consistent with ADHD symptoms, the findings suggest that this network is not specific to ADHD and may reflect large-scale brain networks. Although this meta-analysis adds to the literature on the neurobiology of ADHD, the nonspecific findings convey the importance of studying ADHD at the symptom level.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 2","pages":"91-104"},"PeriodicalIF":0.0,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20108","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Amy Hill, Mohamed Bilal Haradwala, Jean-Baptiste Le Pichon
Introduction
Tacrolimus is a potent immunosuppressive agent effective in preventing solid organ transplant rejection. It is widely used following allogeneic liver, kidney, heart, and bone marrow transplantation. Tacrolimus-related neurotoxicity, which can present in up to one-third of patients, manifests with a broad clinical spectrum. Neuroradiological features are classically reported as bilateral and symmetrical lesions involving the parietal and occipital lobes, similar to posterior reversible encephalopathy syndrome. Tacrolimus-related toxicity can also affect other parts of the brain, including the brainstem, although isolated brainstem involvement is rare.
Methods
This report describes a patient who had tacrolimus-related neurotoxicity with an isolated brainstem lesion in which symptoms resolved with only a brief hold of the tacrolimus. A literature review identified four other pediatric patients who had tacrolimus-associated neurotoxicity with isolated brainstem involvement.
Discussion
Tacrolimus-associated neurotoxicity with pontine lesions in children is rare. In previously reported patients, tacrolimus was discontinued and neurological symptoms resolved. Our patient developed tacrolimus-associated clinical changes and pontine lesions that improved following a brief hold of the tacrolimus treatment. This girl highlights tacrolimus-associated neurotoxicity isolated to the brainstem in pediatric patients and demonstrates that tacrolimus may be safely restarted with careful monitoring and follow-up.
{"title":"Tacrolimus-Related Neurotoxicity of the Pons in Children: Review of the Literature and a Case Report","authors":"Amy Hill, Mohamed Bilal Haradwala, Jean-Baptiste Le Pichon","doi":"10.1002/cns3.70000","DOIUrl":"https://doi.org/10.1002/cns3.70000","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Tacrolimus is a potent immunosuppressive agent effective in preventing solid organ transplant rejection. It is widely used following allogeneic liver, kidney, heart, and bone marrow transplantation. Tacrolimus-related neurotoxicity, which can present in up to one-third of patients, manifests with a broad clinical spectrum. Neuroradiological features are classically reported as bilateral and symmetrical lesions involving the parietal and occipital lobes, similar to posterior reversible encephalopathy syndrome. Tacrolimus-related toxicity can also affect other parts of the brain, including the brainstem, although isolated brainstem involvement is rare.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This report describes a patient who had tacrolimus-related neurotoxicity with an isolated brainstem lesion in which symptoms resolved with only a brief hold of the tacrolimus. A literature review identified four other pediatric patients who had tacrolimus-associated neurotoxicity with isolated brainstem involvement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Tacrolimus-associated neurotoxicity with pontine lesions in children is rare. In previously reported patients, tacrolimus was discontinued and neurological symptoms resolved. Our patient developed tacrolimus-associated clinical changes and pontine lesions that improved following a brief hold of the tacrolimus treatment. This girl highlights tacrolimus-associated neurotoxicity isolated to the brainstem in pediatric patients and demonstrates that tacrolimus may be safely restarted with careful monitoring and follow-up.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"41-45"},"PeriodicalIF":0.0,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70000","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143688783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beatrice Ojuri, Deana Crocetti, Evan Bucklin, Stewart H. Mostofsky, Joshua B. Ewen
Objective
Children with attention-deficit/hyperactivity disorder (ADHD) show excessive mirror overflow (particularly in the nondominant hand); however, patterns of age-related decrease of overflow remain unclear. This study aimed to quantify age-related changes in mirror overflow in youth with and without ADHD.
Methods
Average mirror overflow was examined during left-hand finger tapping (LHFT; nondominant finger tapping) and right-hand finger tapping (RHFT; dominant finger tapping) using electronic finger twitch transducers in a cross-sectional sample of youth with ADHD (n = 77) and typically developing (TD) youth (n = 75) ages 8–18 years. Effects of age and ADHD diagnosis on LHFT, RHFT, and a summed “total” overflow (TOF) across hands were examined across the sample age range and within childhood (8–12 years) and adolescence (13–18 years).
Results
ADHD youth showed a decrease in overflow with age, including a large effect for TOF, with a very large age effect for LHFT but a more moderate age effect for RHFT. TD youth showed a moderate decrease in overflow with age for TOF, with a large decrease for LHFT but no significant decrease for RHFT. Additionally, we found that large effects of ADHD-related excessive overflow in childhood diminished in adolescence.
Interpretation
Findings suggest that mirror overflow in ADHD youth diminishes into adolescence but does not resolve completely, suggesting ADHD-associated increased mirror overflow may reflect both a developmentally resolving effect and a somewhat persistent atypicality. Future studies with larger and longitudinal samples would provide additional insight into mechanisms contributing to excessive mirror overflow and its relationship to both clinical and neurobiological aspects of ADHD-associated disinhibition.
{"title":"Quantifying age-related changes in mirror overflow in children and adolescents with attention-deficit/hyperactivity disorder","authors":"Beatrice Ojuri, Deana Crocetti, Evan Bucklin, Stewart H. Mostofsky, Joshua B. Ewen","doi":"10.1002/cns3.20100","DOIUrl":"https://doi.org/10.1002/cns3.20100","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Children with attention-deficit/hyperactivity disorder (ADHD) show excessive mirror overflow (particularly in the nondominant hand); however, patterns of age-related decrease of overflow remain unclear. This study aimed to quantify age-related changes in mirror overflow in youth with and without ADHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Average mirror overflow was examined during left-hand finger tapping (LHFT; nondominant finger tapping) and right-hand finger tapping (RHFT; dominant finger tapping) using electronic finger twitch transducers in a cross-sectional sample of youth with ADHD (<i>n</i> = 77) and typically developing (TD) youth (<i>n</i> = 75) ages 8–18 years. Effects of age and ADHD diagnosis on LHFT, RHFT, and a summed “total” overflow (TOF) across hands were examined across the sample age range and within childhood (8–12 years) and adolescence (13–18 years).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>ADHD youth showed a decrease in overflow with age, including a large effect for TOF, with a very large age effect for LHFT but a more moderate age effect for RHFT. TD youth showed a moderate decrease in overflow with age for TOF, with a large decrease for LHFT but no significant decrease for RHFT. Additionally, we found that large effects of ADHD-related excessive overflow in childhood diminished in adolescence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Findings suggest that mirror overflow in ADHD youth diminishes into adolescence but does not resolve completely, suggesting ADHD-associated increased mirror overflow may reflect both a developmentally resolving effect and a somewhat persistent atypicality. Future studies with larger and longitudinal samples would provide additional insight into mechanisms contributing to excessive mirror overflow and its relationship to both clinical and neurobiological aspects of ADHD-associated disinhibition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"16-25"},"PeriodicalIF":0.0,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20100","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143688821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Leah Loerinc, Jenny Lin, David S. Wolf, Grace Gombolay
<p>While most children with anti-<i>N</i>-methyl-<span>d</span>-aspartate (NMDA) receptor encephalitis (NMDARE) have normal brain magnetic resonance imaging (MRI) [<span>1</span>], 3% have demyelinating lesions on MRI [<span>2</span>]. We describe a patient who had NMDARE and MRI lesions resembling multiple sclerosis (MS).</p><p>This 16-year-old girl with a history of major depressive disorder presented with 1 month of altered behavior with hyper-religiosity and insomnia. She was admitted to an inpatient psychiatric facility and was started on antipsychotic and antidepressant medications without improvement and was transferred to our facility. On presentation, she was awake but would not regard. She was nonverbal and did not follow commands, had full strength and normal reflexes, and withdrew to noxious stimuli bilaterally.</p><p>Brain MRI with contrast revealed multifocal T2/fluid-attenuated inversion recovery (FLAIR) hyperintense lesions with some enhancement (Figure 1), meeting the McDonald imaging criteria for MS [<span>3</span>]. While some demyelinating syndromes such as myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD) can present with psychosis, psychosis is not a typical MS presentation, so additional evaluation was pursued.</p><p>She subsequently developed acute respiratory distress and was transferred to the intensive care unit. Serum <i>Mycoplasma pneumoniae</i> IgM and IgG were positive by immunofluorescent assay. Routine bloodwork including blood counts, chemistry panels, inflammatory markers, and nutritional labs were unrevealing. Cerebrospinal fluid studies were unremarkable except for an elevated IgG index (2.5). Oligoclonal bands were negative. Serum testing for anti-MOG and aquaporin-4 antibodies were negative for MOGAD and neuromyelitis optica spectrum disorder (NMOSD), respectively. Anti-NMDA antibodies were positive in the cerebrospinal fluid (1:80) and serum (1:160), consistent with a diagnosis of NMDARE.</p><p>She was treated with high dose of intravenous steroids, plasmapheresis, intravenous immunoglobulin, and rituximab. She received azithromycin to treat an acute <i>M. pneumoniae</i> infection. She improved during the next year on maintenance intravenous immunoglobulin and rituximab. On follow-up imaging 1 year later, most lesions had improved or resolved except for one persistent lesion.</p><p>NMDARE is a common cause of pediatric encephalitis and can present with psychiatric symptoms, seizures, movement disorders, or altered consciousness [<span>4</span>]. Definitive diagnosis includes at least one characteristic symptom and positive anti-NMDA autoantibodies [<span>4</span>]. We assessed for autoimmune encephalitis in this patient due to the atypical clinical presentation for a demyelinating disease. Demyelinating features can occur in 3% of patients with NMDARE, with some meeting criteria for MOGAD or NMOSD. However, overlap between MS and NMDARE is not common [<span>2</span>]. While coexistent MS an
{"title":"Anti-NMDA Receptor Encephalitis and Mycoplasma pneumoniae Infection With Demyelination","authors":"Leah Loerinc, Jenny Lin, David S. Wolf, Grace Gombolay","doi":"10.1002/cns3.70001","DOIUrl":"https://doi.org/10.1002/cns3.70001","url":null,"abstract":"<p>While most children with anti-<i>N</i>-methyl-<span>d</span>-aspartate (NMDA) receptor encephalitis (NMDARE) have normal brain magnetic resonance imaging (MRI) [<span>1</span>], 3% have demyelinating lesions on MRI [<span>2</span>]. We describe a patient who had NMDARE and MRI lesions resembling multiple sclerosis (MS).</p><p>This 16-year-old girl with a history of major depressive disorder presented with 1 month of altered behavior with hyper-religiosity and insomnia. She was admitted to an inpatient psychiatric facility and was started on antipsychotic and antidepressant medications without improvement and was transferred to our facility. On presentation, she was awake but would not regard. She was nonverbal and did not follow commands, had full strength and normal reflexes, and withdrew to noxious stimuli bilaterally.</p><p>Brain MRI with contrast revealed multifocal T2/fluid-attenuated inversion recovery (FLAIR) hyperintense lesions with some enhancement (Figure 1), meeting the McDonald imaging criteria for MS [<span>3</span>]. While some demyelinating syndromes such as myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD) can present with psychosis, psychosis is not a typical MS presentation, so additional evaluation was pursued.</p><p>She subsequently developed acute respiratory distress and was transferred to the intensive care unit. Serum <i>Mycoplasma pneumoniae</i> IgM and IgG were positive by immunofluorescent assay. Routine bloodwork including blood counts, chemistry panels, inflammatory markers, and nutritional labs were unrevealing. Cerebrospinal fluid studies were unremarkable except for an elevated IgG index (2.5). Oligoclonal bands were negative. Serum testing for anti-MOG and aquaporin-4 antibodies were negative for MOGAD and neuromyelitis optica spectrum disorder (NMOSD), respectively. Anti-NMDA antibodies were positive in the cerebrospinal fluid (1:80) and serum (1:160), consistent with a diagnosis of NMDARE.</p><p>She was treated with high dose of intravenous steroids, plasmapheresis, intravenous immunoglobulin, and rituximab. She received azithromycin to treat an acute <i>M. pneumoniae</i> infection. She improved during the next year on maintenance intravenous immunoglobulin and rituximab. On follow-up imaging 1 year later, most lesions had improved or resolved except for one persistent lesion.</p><p>NMDARE is a common cause of pediatric encephalitis and can present with psychiatric symptoms, seizures, movement disorders, or altered consciousness [<span>4</span>]. Definitive diagnosis includes at least one characteristic symptom and positive anti-NMDA autoantibodies [<span>4</span>]. We assessed for autoimmune encephalitis in this patient due to the atypical clinical presentation for a demyelinating disease. Demyelinating features can occur in 3% of patients with NMDARE, with some meeting criteria for MOGAD or NMOSD. However, overlap between MS and NMDARE is not common [<span>2</span>]. While coexistent MS an","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"59-61"},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143688779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Catherine A. Kronfol, Aaron W. Hocher, E. Steve Roach
<p>We describe a baby with severe hyperammonemia who was initially suspected to have an inborn error of metabolism but instead had <i>Ureaplasma</i> sepsis. Hyperammonemia from <i>Ureaplasma</i> infection is well-documented in immunocompromised adults, but the phenomenon has not been described in neonates, in whom hyperammonemia is usually assumed to represent a hereditary metabolic disease.</p><p>This 36-week gestation baby was transferred from another hospital because of metabolic acidosis, respiratory distress, and suspected seizures. His mother's pregnancy was complicated by maternal diabetes, premature rupture of membranes, and a 3-day history of vaginal bleeding. He was born limp, lethargic, and cyanotic, with Apgar scores of 3 and 7. On day 2 of life, he required intubation because of apnea and metabolic acidosis. Abnormal facial movements and posturing were initially suspected to represent seizures, so he was loaded with phenobarbital and levetiracetam. He also received empiric antibiotics and antiviral medications.</p><p>Antiseizure medications were halted after continuous electroencephalography showed no epileptiform discharges during his abnormal movements. Blood cultures and cerebrospinal fluid analysis were unremarkable, aside from an elevated cerebrospinal fluid protein. A respiratory culture for <i>Ureaplasma</i> was negative, but next-generation DNA sequencing of serum confirmed evidence of <i>Ureaplasma</i> urealyticum, for which he received azithromycin. His initial serum ammonia level was dramatically elevated (1284 μg/dL). His ammonia level increased to 1374 μg/dL despite the infusion of sodium benzoate and sodium phenylacetate, and he began continuous kidney replacement therapy. Urine organic acids, plasma amino acids, serum pyruvate, and carnitine were normal. Genetic testing was not completed due to his improving clinical condition, his resolving hyperammonemia, and the <i>Ureaplasma</i> sepsis diagnosis.</p><p>At 1 week of age, multifocal cerebellar hemorrhages were documented on ultrasound and computed tomography (Figure 1). The hemorrhages were also evident with magnetic resonance imaging (MRI). No hemorrhages were identified in other areas of the brain, nor did the MRI reveal abnormalities suggestive of inborn errors of metabolism.</p><p>By 3 weeks of age, his condition had improved and his ammonia level had fallen to 63 μg/dL. At 13 months of age, he was starting to walk, playfully interacting, and saying several words. He has experienced no seizures or periods of lethargy.</p><p>This child was transferred due to suspected seizures, but continuous electroencephalography showed no epileptiform discharges, even during the movements. His serum ammonia level was dramatically elevated, leading to the initial suspicion of an inborn error of metabolism. However, neither metabolic testing nor MRI showed evidence of hereditary metabolic disorders, and the subsequent resolution of his hyperammonemia and his normal outcome furthe
我们描述了一个婴儿严重的高氨血症，最初怀疑有先天性代谢错误，但却有尿原体败血症。脲原体感染引起的高氨血症在免疫功能低下的成年人中有充分的文献记载，但在新生儿中没有描述过这种现象，通常认为高氨血症是一种遗传性代谢疾病。这名孕36周的婴儿因代谢性酸中毒、呼吸窘迫和疑似癫痫发作从另一家医院转来。他母亲的妊娠因母亲糖尿病、胎膜早破和3天阴道出血而复杂化。他出生时跛行，昏睡，面色苍白，阿普加评分为3分和7分。出生第2天，因呼吸暂停和代谢性酸中毒需要插管。异常的面部运动和姿势最初被怀疑是癫痫发作的表现，因此他被注射了苯巴比妥和左乙拉西坦。他还接受了经验性抗生素和抗病毒药物治疗。在连续脑电图显示异常运动期间无癫痫样放电后，停用抗癫痫药物。除了脑脊液蛋白升高外，血培养和脑脊液分析无显著差异。呼吸培养脲原体呈阴性，但下一代血清DNA测序证实了解脲原体的证据，为此他接受了阿奇霉素治疗。患者初始血清氨水平显著升高（1284 μg/dL）。尽管输注苯甲酸钠和苯乙酸钠，他的氨水平仍上升至1374 μg/dL，并开始持续肾脏替代治疗。尿有机酸、血浆氨基酸、血清丙酮酸和肉碱均正常。由于患者临床状况好转，高氨血症得以缓解，且诊断为脲原体败血症，故未完成基因检测。在1周龄时，超声和计算机断层扫描记录了多灶性小脑出血（图1）。磁共振成像（MRI）也显示出血。在大脑的其他区域没有发现出血，核磁共振成像也没有显示先天性代谢异常。3周龄时，患儿病情好转，氨浓度降至63 μg/dL。在13个月大的时候，他开始走路，开玩笑地互动，说几个词。他没有癫痫发作或昏睡。该患儿因疑似癫痫转移，但连续脑电图未显示癫痫样放电，即使在运动过程中也是如此。他的血清氨水平急剧升高，导致最初的怀疑是先天性代谢错误。然而，代谢测试和MRI均未显示遗传性代谢疾病的证据，随后高氨血症的消退和正常结果进一步支持没有遗传性疾病。解脲支原体脓毒症的诊断是基于下一代血清DNA测序检测微生物无细胞DNA （cfDNA）。这是一种经过临床验证的诊断工具，可以在脓毒症患者血培养中检测到高达94%的病原体中的微生物cfDNA。解脲支原体是一种微小而挑剔的原核生物，很难观察或培养。这些生物在尿素水解过程中释放大量氨，有时导致临床高氨血症[2,3]。新生儿因脲原体败血症引起的高氨血症的诊断尤其具有挑战性，其高氨血症很可能被错误地归因于先天性代谢错误。孤立的小脑出血已被记录在各种有机酸中毒的婴儿中[4-6]。丙酸血症、甲基丙二酸血症和异戊酸血症通常表现为婴儿急性代谢性失代偿和脑病，常伴有高氨血症。本例获得性高氨血症患者小脑出血的发生表明，无论其来源如何，新生儿小脑可能特别容易受到高氨血症的影响。Catherine A. Kronfol：概念化，调查，写作-评论和编辑。Aaron W. Hocher：构思，写作-原稿，写作-审查和编辑。史蒂夫·罗奇：构思，写作-原稿，写作-审查和编辑，监督。史蒂夫·罗奇（Steve Roach）是《儿童神经病学学会年鉴》的主编。其他作者声明没有利益冲突。
{"title":"Neonatal Hyperammonemia Due to Ureaplasma Sepsis","authors":"Catherine A. Kronfol, Aaron W. Hocher, E. Steve Roach","doi":"10.1002/cns3.20107","DOIUrl":"https://doi.org/10.1002/cns3.20107","url":null,"abstract":"<p>We describe a baby with severe hyperammonemia who was initially suspected to have an inborn error of metabolism but instead had <i>Ureaplasma</i> sepsis. Hyperammonemia from <i>Ureaplasma</i> infection is well-documented in immunocompromised adults, but the phenomenon has not been described in neonates, in whom hyperammonemia is usually assumed to represent a hereditary metabolic disease.</p><p>This 36-week gestation baby was transferred from another hospital because of metabolic acidosis, respiratory distress, and suspected seizures. His mother's pregnancy was complicated by maternal diabetes, premature rupture of membranes, and a 3-day history of vaginal bleeding. He was born limp, lethargic, and cyanotic, with Apgar scores of 3 and 7. On day 2 of life, he required intubation because of apnea and metabolic acidosis. Abnormal facial movements and posturing were initially suspected to represent seizures, so he was loaded with phenobarbital and levetiracetam. He also received empiric antibiotics and antiviral medications.</p><p>Antiseizure medications were halted after continuous electroencephalography showed no epileptiform discharges during his abnormal movements. Blood cultures and cerebrospinal fluid analysis were unremarkable, aside from an elevated cerebrospinal fluid protein. A respiratory culture for <i>Ureaplasma</i> was negative, but next-generation DNA sequencing of serum confirmed evidence of <i>Ureaplasma</i> urealyticum, for which he received azithromycin. His initial serum ammonia level was dramatically elevated (1284 μg/dL). His ammonia level increased to 1374 μg/dL despite the infusion of sodium benzoate and sodium phenylacetate, and he began continuous kidney replacement therapy. Urine organic acids, plasma amino acids, serum pyruvate, and carnitine were normal. Genetic testing was not completed due to his improving clinical condition, his resolving hyperammonemia, and the <i>Ureaplasma</i> sepsis diagnosis.</p><p>At 1 week of age, multifocal cerebellar hemorrhages were documented on ultrasound and computed tomography (Figure 1). The hemorrhages were also evident with magnetic resonance imaging (MRI). No hemorrhages were identified in other areas of the brain, nor did the MRI reveal abnormalities suggestive of inborn errors of metabolism.</p><p>By 3 weeks of age, his condition had improved and his ammonia level had fallen to 63 μg/dL. At 13 months of age, he was starting to walk, playfully interacting, and saying several words. He has experienced no seizures or periods of lethargy.</p><p>This child was transferred due to suspected seizures, but continuous electroencephalography showed no epileptiform discharges, even during the movements. His serum ammonia level was dramatically elevated, leading to the initial suspicion of an inborn error of metabolism. However, neither metabolic testing nor MRI showed evidence of hereditary metabolic disorders, and the subsequent resolution of his hyperammonemia and his normal outcome furthe","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"57-58"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Peter F. Sarnacki, Gary Hsich, Aaron Abrams, Sumit Parikh
This 2-year-old neurodevelopmentally normal boy presented with abrupt onset of multiple leg clonic seizures with retained awareness (Video 1). Video-electroencephalography confirmed epileptic spikes and ictal onset arising from the vertex region, with an otherwise normal background. Initially controlled with levetiracetam, the seizures evolved to right leg epilepsia partialis continua (EPC). Two weeks later, he developed a hyperkinetic movement disorder reminiscent of chorea-ballismus. One week later, he exhibited developmental regression with encephalopathy, mutism, and insomnia. Anti-N-methyl-d-aspartate receptor (anti-NMDAR) antibody was positive in serum and cerebrospinal fluid, and oligoclonal bands were present. He received intravenous high-dose steroids and intravenous immune globulin and had incremental improvement. By 9 weeks from presentation he had made a remarkable recovery with almost complete symptom resolution.
The vast majority (95%) of children with anti-NMDAR encephalitis will develop a movement disorder, most commonly orofacial-lingual dyskinesias, but these may manifest broadly as chorea, athetosis, ballismus, dystonia, stereotypies, opisthotonus, oculogyric crisis, or bradykinesia [1]. Compared with adults, EPC and movement disorders occur more often as the initial presenting manifestation in children [2]. A diagnosis of anti-NMDAR encephalitis should be considered in young children with new-onset movement disorders and seizures (in particular, EPC), even in the absence of classically associated psychiatric or cognitive symptoms.
Peter F. Sarnacki: conceptualization, investigation, writing–original draft, methodology, visualization, writing–review and editing, formal analysis, project administration, data curation. Gary Hsich: investigation, visualization, supervision, writing–review and editing. Aaron Abrams: conceptualization, writing–review and editing, visualization, supervision. Sumit Parikh: conceptualization, writing–review and editing, visualization, supervision.
The authors declare no conflicts of interest.
2岁神经发育正常的男孩表现为突然发作的多次腿部阵挛性癫痫，并伴有意识不清（视频1）。视频脑电图证实癫痫尖峰和癫痫发作发生在顶点区，其他方面背景正常。最初用左乙拉西坦控制，癫痫发作演变为右腿部分持续性癫痫（EPC）。两周后，他出现了一种多动运动障碍，让人想起了舞蹈症。一周后，他表现出发育倒退，伴有脑病、缄默症和失眠。血清和脑脊液中抗n -甲基-d-天冬氨酸受体（anti-NMDAR）抗体阳性，呈低克隆带。他接受了静脉注射大剂量类固醇和静脉注射免疫球蛋白，病情逐渐好转。9周后，他的症状几乎完全消失，恢复得很好。绝大多数（95%）患有抗nmdar脑炎的儿童会出现运动障碍，最常见的是口面部-语言运动障碍，但这些障碍也可能广泛表现为舞蹈病、手足动症、ballismus、肌张力障碍、刻板印象、斜拉肌、眼动危象或运动迟缓[10]。与成人相比，EPC和运动障碍更常作为儿童[2]的初始表现。在新发运动障碍和癫痫发作（特别是EPC）的幼儿中，即使没有典型的相关精神或认知症状，也应考虑抗nmdar脑炎的诊断。Peter F. Sarnacki：概念化、调查、写作原稿、方法论、可视化、写作审查和编辑、形式分析、项目管理、数据管理。Gary hich：调查，可视化，监督，写作-审查和编辑。亚伦·艾布拉姆斯：概念化，写作审查和编辑，可视化，监督。Sumit Parikh：概念化，写作审查和编辑，可视化，监督。作者声明无利益冲突。
{"title":"Explosive-Onset Epilepsia Partialis Continua and Chorea","authors":"Peter F. Sarnacki, Gary Hsich, Aaron Abrams, Sumit Parikh","doi":"10.1002/cns3.20106","DOIUrl":"https://doi.org/10.1002/cns3.20106","url":null,"abstract":"<p>This 2-year-old neurodevelopmentally normal boy presented with abrupt onset of multiple leg clonic seizures with retained awareness (Video 1). Video-electroencephalography confirmed epileptic spikes and ictal onset arising from the vertex region, with an otherwise normal background. Initially controlled with levetiracetam, the seizures evolved to right leg epilepsia partialis continua (EPC). Two weeks later, he developed a hyperkinetic movement disorder reminiscent of chorea-ballismus. One week later, he exhibited developmental regression with encephalopathy, mutism, and insomnia. Anti-<i>N</i>-methyl-<span>d</span>-aspartate receptor (anti-NMDAR) antibody was positive in serum and cerebrospinal fluid, and oligoclonal bands were present. He received intravenous high-dose steroids and intravenous immune globulin and had incremental improvement. By 9 weeks from presentation he had made a remarkable recovery with almost complete symptom resolution.</p><p>The vast majority (95%) of children with anti-NMDAR encephalitis will develop a movement disorder, most commonly orofacial-lingual dyskinesias, but these may manifest broadly as chorea, athetosis, ballismus, dystonia, stereotypies, opisthotonus, oculogyric crisis, or bradykinesia [<span>1</span>]. Compared with adults, EPC and movement disorders occur more often as the initial presenting manifestation in children [<span>2</span>]. A diagnosis of anti-NMDAR encephalitis should be considered in young children with new-onset movement disorders and seizures (in particular, EPC), even in the absence of classically associated psychiatric or cognitive symptoms.</p><p><b>Peter F. Sarnacki:</b> conceptualization, investigation, writing–original draft, methodology, visualization, writing–review and editing, formal analysis, project administration, data curation. <b>Gary Hsich:</b> investigation, visualization, supervision, writing–review and editing. <b>Aaron Abrams:</b> conceptualization, writing–review and editing, visualization, supervision. <b>Sumit Parikh:</b> conceptualization, writing–review and editing, visualization, supervision.</p><p>The authors declare no conflicts of interest.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"62-63"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20106","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Howard P. Goodkin, David E. Mandelbaum, John R. Mytinger, Phillip L. Pearl
<p>Robert S. Rust, born August 11, 1948 in Van Nuys, California, was a true polymath—physician extraordinaire, investigator, teacher, scholar, historian, and musician. He exemplified and imparted the importance of Osler's <i>Aequanimitas</i> as well as the value of a firm handshake. A bibliophile and prolific reviewer for the <i>Virginia Quarterly</i>, his interests, expertise, and impact leave an extraordinary legacy (Figures 1-3).</p><p>Dr. Rust received a Bachelor of Arts in History and English <i>magna cum laude</i> from Kent State University in 1970, followed by a Master of Arts in History from his beloved University of Virginia (UVA) and certificate in Greek language, history, and culture at the University of Thessaloniki/Institute for Balkan Studies. His education career began as a biology teacher at Albemarle High School (Albemarle County, VA), then as Associate Director of Studies at the International College Salzburg, Austria, where he lectured on the history of philosophy and science.</p><p>Rob then spent several years as a research associate in the UVA Department of Surgery, studying wound infections and the lymphatic aspects of immune function—an area that proved to be especially relevant in hindsight. During this time, he also developed a deep interest in the writings of Osler and Penfield. He would matriculate into the medical school with the plan of entering surgery until he encountered luminaries such as the renowned neuroanatomist Lennart Heimer, epileptologist Fritz Dreifuss, and neurologist/neuropathologist James Q. Miller, leading to a historic change of direction. He completed pediatric residency at Yale followed by pediatric neurology at Washington University, influenced particularly by Laura Ment, George Lister, Philip Dodge, Arthur Prensky, Ed Dodson, and Joseph Volpe. The early interest in immunology was especially fostered by Dodson and adult neurologist John Trotter, with Dr. Rust's first publication establishing reference values for cerebrospinal fluid immunoglobulins in children published in the <i>Annals of Neurology</i> [<span>1</span>]. Rob then worked in Dr. Volpe's laboratory, studying the regulation of the dolichol synthase pathway and protein glycosylation [<span>2</span>]. He also worked in the famed metabolism laboratory of Oliver Lowry, meticulously quantifying enzymatic activity from cell culture analysis in cerebral cortex and superior cervical ganglia [<span>3</span>].</p><p>Dr. Rust then moved to the University of Wisconsin, succeeding Ray Chun as Director of Child Neurology and Medical Director, Cerebral Palsy Clinic, and established a National Institutes of Health (NIH)–funded Developmental Brain Chemistry Laboratory. Dr. Chun became a lifelong mentor and friend; Rob kept a photograph of Dr. Chun, grinning widely in the presence of a child, on his desk throughout his career. Dr. Rust was especially touched to deliver the Raymond Chun Memorial Address in Madison in 2014.</p><p>In 1997, Rob joined Bosto
罗伯特·s·拉斯特，1948年8月11日出生于加州凡奈斯，是一位真正的多面手——杰出的医生、研究者、教师、学者、历史学家和音乐家。他举例说明并传授了奥斯勒的“平等精神”的重要性，以及坚定握手的价值。他是《弗吉尼亚季刊》的藏书家和多产评论家，他的兴趣、专业知识和影响留下了非凡的遗产（图1-3）。1970年，鲁斯特在肯特州立大学获得历史和英语文学学士学位，随后在他心爱的弗吉尼亚大学（UVA）获得历史文学硕士学位，并在塞萨洛尼基大学/巴尔干研究所获得希腊语、历史和文化证书。他的教育生涯始于在Albemarle高中（弗吉尼亚州Albemarle县）担任生物教师，然后在奥地利萨尔茨堡国际学院担任研究副主任，在那里他讲授哲学和科学史。随后，罗布在弗吉尼亚大学外科学系做了几年的助理研究员，研究伤口感染和免疫功能的淋巴方面——事后证明这个领域特别相关。在此期间，他还对奥斯勒和彭菲尔德的著作产生了浓厚的兴趣。他将进入医学院的计划进入外科，直到他遇到了著名的神经解剖学家Lennart Heimer，癫痫学家Fritz Dreifuss和神经学家/神经病理学家James Q. Miller等名人，导致了方向的历史性改变。他在耶鲁大学完成了儿科住院医师实习期，随后在华盛顿大学完成了儿科神经学实习，受到劳拉·门特、乔治·利斯特、菲利普·道奇、阿瑟·普伦斯基、埃德·多德森和约瑟夫·沃尔普的影响尤为明显。早期对免疫学的兴趣是由Dodson和成人神经学家John Trotter特别培养的，Rust博士在《神经病学年鉴》（Annals of Neurology）上发表的第一篇文章建立了儿童脑脊液免疫球蛋白的参考值。随后，罗布在沃尔普博士的实验室工作，研究醇合酶途径和蛋白质糖基化[2]的调节。他还曾在著名的奥利弗·劳瑞代谢实验室工作，通过对大脑皮层和颈上神经节的细胞培养分析，细致地量化酶的活性。Rust随后搬到威斯康星大学，接替Ray Chun担任脑瘫诊所儿童神经病学主任和医学主任，并建立了美国国立卫生研究院（NIH）资助的发育脑化学实验室。全博士成为了我一生的导师和朋友；在他的整个职业生涯中，罗伯一直在办公桌上放着一张全斗焕在一个孩子面前咧嘴大笑的照片。2014年，Rust博士在麦迪逊发表Raymond Chun纪念演讲时特别感动。1997年，Rob加入波士顿儿童医院，担任哈佛医学院副教授和临床学者，以及神经病学诊所和教育主任。他很快获得了哈佛大学朗伍德地区杰出教学奖和一项特殊的神经内科住院医师教学奖。1999年，他回到谢南多厄山谷和弗吉尼亚皮埃蒙特，成为托马斯·e·沃雷尔癫痫学和神经学教授，特别是之前由弗里茨·德雷弗斯担任的教授。他很快重启了UVA儿童神经病学培训项目，于2007年成为部门主管，并一直在UVA任教，直到2015年退休。弗吉尼亚大学神经学系通过赞助年度Robert S. Rust捐赠讲座和年度Robert S. Rust教师教学奖来表彰他对该系的许多贡献。当被问及他的计划时，他会说，他的下一站是弗吉尼亚大学的教职工墓地，在那里，他经常会被发现为德莱福斯博士、历史学家伯纳德·梅奥（Bernard Mayo）和其他杰出教职工的坟墓扫墓。他在知识、临床教学和研究方面的巨大成就令人叹为观止。当问拉斯特博士一个“是或否”的问题时，人们总是需要准备一篇关于这个话题的详尽文章。作为他的资深儿科住院医师，我们中的一位（DEM）回忆说，即使在他职业生涯的早期阶段，我们所要做的就是观察和钦佩罗布作为临床医生和教育家的卓越表现。他对文献的科学贡献包括对急性小脑性失调[4]、丙二酸盐相关性高氨血症[5]的左旋肉碱补充、脑损伤后痉挛性自主神经不稳定伴张力障碍[6]的仔细而权威的描述。关于感染性和准感染性神经疾病、癫痫和头痛、中风及相关综合征、运动障碍、头部创伤、自闭症、发育性语言障碍、全身性疾病的神经学表现，以及神经科学和儿科学的历史，有大量广泛而深入的手稿、评论和章节。 在一个即时交流成为可能分享案例、整体职业反思和建议的时代，更不用说他为儿童神经病学名单服务（Child-Neuro List Serve）做出的杰出、易懂、每日且显然毫不费事的贡献，这将是一种疏忽。没有人比罗伯·拉斯特做得更慷慨、更全面了。List Serve的联合创始人、密歇根大学教员史蒂夫·莱伯（Steve Leber）最喜欢的一个轶事是，在儿童神经病学学会（CNS）年会召开前一周左右，一位住院医生和莱伯医生发布了一个不知名的病例。在会议上见到史蒂夫后，罗布说：“当我确信你很明显地认为病人患有尼曼-匹克c型时，你让住院医生自己试着把病例贴在清单上，真是太好了。”拉斯特对儿科神经病学的影响最明显地体现在教育以及他接触过的受训者、同事和病人身上。2011年出版的《儿科神经病学研讨会》题为“21世纪儿童神经学家的培训”，他编辑并贡献了大量内容，这本书为住院医师培训提供了蓝图，并为衡量该领域的发展提供了指南。他的床边教学风格，至少部分是模仿菲利普·道奇（Philip Dodge）和雷·春（Ray Chun），令人着迷，而且总是强调该专业的人文主义方面。Rust曾在多个编辑委员会任职，包括《新英格兰医学杂志观察》（New England Journal of Medicine Journal Watch），并且是一名活跃的口头ABPN审查员，NIH/国家神经疾病研究所和中风赞助的言语/语言障碍协会的特别顾问，美国神经病学学会（AAN）儿童神经病学教育委员会和儿童神经病学分会主席。他是AAN儿科神经病学住院医师在职培训考试的主要作者，曾担任CNS南方委员，并担任国际儿童神经病学协会主席咨询委员会和执行委员会成员。他最为人所知的也许是他年复一年地为CNS获奖者撰写的无与伦比的文字肖像，他是该协会的首席档案保管员，为那些因自己的贡献而获得荣誉的人撰写了精彩的文章。他的奖项包括Albemarle高中（1971年）和萨尔茨堡国际学院（1974年）的教学奖，华盛顿大学Irwin P. Levy神经学教学奖（1984年），八项大学或国家教学奖和无数客座教授，CNS Hower奖（2006年）和CNS蓝鸟圈培训主任奖（2015年）。和罗布在一起的时光总是很快乐。开车去弗吉尼亚大学西南弗吉尼亚野外诊所照顾那些服务不足的人群，罗布会通过故事讲述生活和神经学。任何有幸和罗布一起游览弗吉尼亚大学学术村或蒙蒂塞洛的人都可以享受到一种享受，因为他让历史真正鲜活起来。我们其中一人（PLP）最难忘的回忆是在死海举行的纪念著名儿科神经外科医生弗雷德·爱泼斯坦的会议。在一次马萨达的巴士之旅中，罗布比导游更了解马萨达的历史，这让每个人都感到惊讶。毫无疑问，Rob将因其在儿科神经病学领域的杰出表现和贡献而被人们铭记。然而，他的主要成就是成为一位慈爱的丈夫和父亲。在对弗吉尼亚大学毕业生的演讲中，罗伯警告说：“墓碑上写着亲爱的丈夫和父亲，而不是186篇论文的作者。”霍华德·p·古德金：概念、写作、评论和编辑。大卫·e·曼德尔鲍姆：概念化，写作-评论和编辑。约翰·r·麦丁格：概念化，写作-评论和编辑。菲利普·l·珀尔：构思，写作-原稿，写作-审查和编辑。
{"title":"Robert S. Rust, Jr. (1948–2024)","authors":"Howard P. Goodkin, David E. Mandelbaum, John R. Mytinger, Phillip L. Pearl","doi":"10.1002/cns3.70002","DOIUrl":"https://doi.org/10.1002/cns3.70002","url":null,"abstract":"<p>Robert S. Rust, born August 11, 1948 in Van Nuys, California, was a true polymath—physician extraordinaire, investigator, teacher, scholar, historian, and musician. He exemplified and imparted the importance of Osler's <i>Aequanimitas</i> as well as the value of a firm handshake. A bibliophile and prolific reviewer for the <i>Virginia Quarterly</i>, his interests, expertise, and impact leave an extraordinary legacy (Figures 1-3).</p><p>Dr. Rust received a Bachelor of Arts in History and English <i>magna cum laude</i> from Kent State University in 1970, followed by a Master of Arts in History from his beloved University of Virginia (UVA) and certificate in Greek language, history, and culture at the University of Thessaloniki/Institute for Balkan Studies. His education career began as a biology teacher at Albemarle High School (Albemarle County, VA), then as Associate Director of Studies at the International College Salzburg, Austria, where he lectured on the history of philosophy and science.</p><p>Rob then spent several years as a research associate in the UVA Department of Surgery, studying wound infections and the lymphatic aspects of immune function—an area that proved to be especially relevant in hindsight. During this time, he also developed a deep interest in the writings of Osler and Penfield. He would matriculate into the medical school with the plan of entering surgery until he encountered luminaries such as the renowned neuroanatomist Lennart Heimer, epileptologist Fritz Dreifuss, and neurologist/neuropathologist James Q. Miller, leading to a historic change of direction. He completed pediatric residency at Yale followed by pediatric neurology at Washington University, influenced particularly by Laura Ment, George Lister, Philip Dodge, Arthur Prensky, Ed Dodson, and Joseph Volpe. The early interest in immunology was especially fostered by Dodson and adult neurologist John Trotter, with Dr. Rust's first publication establishing reference values for cerebrospinal fluid immunoglobulins in children published in the <i>Annals of Neurology</i> [<span>1</span>]. Rob then worked in Dr. Volpe's laboratory, studying the regulation of the dolichol synthase pathway and protein glycosylation [<span>2</span>]. He also worked in the famed metabolism laboratory of Oliver Lowry, meticulously quantifying enzymatic activity from cell culture analysis in cerebral cortex and superior cervical ganglia [<span>3</span>].</p><p>Dr. Rust then moved to the University of Wisconsin, succeeding Ray Chun as Director of Child Neurology and Medical Director, Cerebral Palsy Clinic, and established a National Institutes of Health (NIH)–funded Developmental Brain Chemistry Laboratory. Dr. Chun became a lifelong mentor and friend; Rob kept a photograph of Dr. Chun, grinning widely in the presence of a child, on his desk throughout his career. Dr. Rust was especially touched to deliver the Raymond Chun Memorial Address in Madison in 2014.</p><p>In 1997, Rob joined Bosto","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"4-6"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The below Conflicts of Interest related to membership on the ACNS editorial board were missing in the following articles.
van Haren KP, et al. Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy. Ann Child Neurol Soc. 2023;1(2):155-161. doi:10.1002/cns3.4
In the above article, the following sentence should have been included in the Conflicts of Interest section: “J. B. L. is a member of the ACNS editorial board.”
Wanigasinghe J, et al. Demographic characteristics and clinical presentation of infants with infantile epileptic spasms syndrome and their response to therapy: data from Sri Lanka Infantile Spasms Registry. Ann Child Neurol Soc. 2023;1(2):137-143. doi:10.1002/cns3.20014
In the above article, the Conflicts of Interest section should have read, “Jithangi Wanigasinghe is a member of the ACNS editorial board. The remaining authors declare no conflicts of interest.”
Mohammadpour Touserkani F, Andriotis T, Zhang Y, Pavlakis S. Cerebral venous thrombosis and B12 deficiency. Ann Child Neurol Soc. 2023;1(2):152-154. doi:10.1002/cns3.9
In the above article, the Conflicts of Interest section should have read, “Steven Pavlakis is a member of the ACNS editorial board. The remaining authors declare no conflicts of interest.”
Bansal S, et al. A question prompt list for sudden unexpected death in epilepsy. Ann Child Neurol Soc. 2023;1(2):144-148. doi:10.1002/cns3.20027
In the above article, these two declarations should have been included in the Conflicts of Interest section: “Dr. Shellhaas is a member of the ACNS editorial board.” and “Dr. Lemmon is also a member of the ACNS editorial board.”
{"title":"Correction to Annals of the Child Neurology Society articles","authors":"","doi":"10.1002/cns3.20097","DOIUrl":"https://doi.org/10.1002/cns3.20097","url":null,"abstract":"<p>The below Conflicts of Interest related to membership on the ACNS editorial board were missing in the following articles.</p><p>van Haren KP, et al. Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy. <i>Ann Child Neurol Soc</i>. 2023;1(2):155-161. doi:10.1002/cns3.4</p><p>In the above article, the following sentence should have been included in the Conflicts of Interest section: “J. B. L. is a member of the ACNS editorial board.”</p><p>Wanigasinghe J, et al. Demographic characteristics and clinical presentation of infants with infantile epileptic spasms syndrome and their response to therapy: data from Sri Lanka Infantile Spasms Registry. <i>Ann Child Neurol Soc</i>. 2023;1(2):137-143. doi:10.1002/cns3.20014</p><p>In the above article, the Conflicts of Interest section should have read, “Jithangi Wanigasinghe is a member of the ACNS editorial board. The remaining authors declare no conflicts of interest.”</p><p>Mohammadpour Touserkani F, Andriotis T, Zhang Y, Pavlakis S. Cerebral venous thrombosis and B12 deficiency. <i>Ann Child Neurol Soc</i>. 2023;1(2):152-154. doi:10.1002/cns3.9</p><p>In the above article, the Conflicts of Interest section should have read, “Steven Pavlakis is a member of the ACNS editorial board. The remaining authors declare no conflicts of interest.”</p><p>Bansal S, et al. A question prompt list for sudden unexpected death in epilepsy. <i>Ann Child Neurol Soc</i>. 2023;1(2):144-148. doi:10.1002/cns3.20027</p><p>In the above article, these two declarations should have been included in the Conflicts of Interest section: “Dr. Shellhaas is a member of the ACNS editorial board.” and “Dr. Lemmon is also a member of the ACNS editorial board.”</p><p>We apologize for this error.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"64"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20097","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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