Emanuele A Liotta, Federica Dierna, Antonio Zanghì, S. Salafia, Michele Vecchio, Rita Chiaramonte, Giovanna Cancemi, Giuseppe Belfiore, Antonio Basile, Martino Ruggieri, A. Polizzi
Extensive research has been conducted on the cerebellum, making it one of the most thoroughly investigated regions of the brain. It plays a fundamental role not only in motor control but also in motor learning and cognition. The development of the cerebellum is a lengthy process, beginning during the embryonic period up to the first years of life. This slow and protracted process makes it a vulnerable organ liable to different insults, responsible for many developmental disorders such as Dandy–Walker syndrome, medulloblastoma, dystroglicanopathy, pontocerebellar hypoplasia, thubulinopathies, and Jubert syndrome. Due to several factors, the true prevalence of cerebellar malformations is not known in most cases. The cerebellum undergoes development through following four fundamental stages:(1) Identification of the cerebellar region at the boundary between the midbrain and hindbrain.(2) Establishment of two cell proliferation compartments: firstly, Purkinje cells and deep cerebellar nuclei emerge from the ventricular zone of the metencephalic alar plate; secondly, granule cell precursors are generated from a separate proliferation compartment known as the upper rhombic lip.(3) Migration of granule cells toward the interior: granule precursor cells constitute the external granular layer (EGL), and during the initial postnatal year, granule cells migrate inward to their final position in the internal granular layer.(4) Formation of cerebellar circuitry and subsequent differentiation.Based on different types of involvement of the structures detected in the brain magnetic resonance, the classification of brainstem and cerebellar anomalies is divided into three categories: (1) mainly the cerebellum, (2) mainly the brain stem, and (3) both involved. This review will outline the developmental processes of the cerebellum and delve into common developmental disorders associated with it, including the Dandy–Walker syndrome, cerebellar hypoplasia, rhomboencephalosynapsis, lissencephaly, and gray matter heterotopias.
{"title":"Anomalies of Midbrain/Hindbrain Development: Malformations of Cerebellum: Diagnosis, Classification, and Rehabilitative Hypothesis","authors":"Emanuele A Liotta, Federica Dierna, Antonio Zanghì, S. Salafia, Michele Vecchio, Rita Chiaramonte, Giovanna Cancemi, Giuseppe Belfiore, Antonio Basile, Martino Ruggieri, A. Polizzi","doi":"10.1055/s-0044-1786788","DOIUrl":"https://doi.org/10.1055/s-0044-1786788","url":null,"abstract":"Extensive research has been conducted on the cerebellum, making it one of the most thoroughly investigated regions of the brain. It plays a fundamental role not only in motor control but also in motor learning and cognition. The development of the cerebellum is a lengthy process, beginning during the embryonic period up to the first years of life. This slow and protracted process makes it a vulnerable organ liable to different insults, responsible for many developmental disorders such as Dandy–Walker syndrome, medulloblastoma, dystroglicanopathy, pontocerebellar hypoplasia, thubulinopathies, and Jubert syndrome. Due to several factors, the true prevalence of cerebellar malformations is not known in most cases. The cerebellum undergoes development through following four fundamental stages:(1) Identification of the cerebellar region at the boundary between the midbrain and hindbrain.(2) Establishment of two cell proliferation compartments: firstly, Purkinje cells and deep cerebellar nuclei emerge from the ventricular zone of the metencephalic alar plate; secondly, granule cell precursors are generated from a separate proliferation compartment known as the upper rhombic lip.(3) Migration of granule cells toward the interior: granule precursor cells constitute the external granular layer (EGL), and during the initial postnatal year, granule cells migrate inward to their final position in the internal granular layer.(4) Formation of cerebellar circuitry and subsequent differentiation.Based on different types of involvement of the structures detected in the brain magnetic resonance, the classification of brainstem and cerebellar anomalies is divided into three categories: (1) mainly the cerebellum, (2) mainly the brain stem, and (3) both involved. This review will outline the developmental processes of the cerebellum and delve into common developmental disorders associated with it, including the Dandy–Walker syndrome, cerebellar hypoplasia, rhomboencephalosynapsis, lissencephaly, and gray matter heterotopias.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140987669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Central nervous system (CNS) malformations encompass diverse congenital anomalies impacting brain and spinal cord development, profoundly affecting neurological function. They arise from disruptions in embryonic neural tube formation, neuronal migration, and cortical organization. This abstract provides a comprehensive overview of CNS malformations, covering classification, etiology, clinical manifestations, and diagnostic challenges. CNS malformations fall into distinct groups: neural tube defects (e.g., anencephaly, spina bifida), resulting from incomplete neural tube closure; malformations of cortical development (e.g., lissencephaly, polymicrogyria), featuring irregularities in cortical folding; and anomalies affecting structures like the corpus callosum, cerebellum, and CNS vasculature, alongside conditions such as hydrocephalus and Chiari malformations. Genetic factors, including mutations in LIS1, DCX, and RELN, contribute significantly, while environmental factors like maternal folic acid deficiency also play a role. Some malformations occur in genetic syndromes (e.g., tuberous sclerosis, neurofibromatosis). Clinical presentations vary, with neural tube defects typically presenting severe deficits at birth, while cortical malformations manifest as intellectual disabilities, seizures, and motor deficits. Hydrocephalus elevates intracranial pressure, and Chiari malformations cause headaches and neurological symptoms. Diagnosis necessitates a multidisciplinary approach involving clinical evaluation, neuroimaging, genetic testing, and histopathological analysis. Prenatal diagnosis via ultrasound and magnetic resonance imaging is crucial for planning interventions, while postnatal diagnosis relies on clinical and imaging findings.Understanding CNS malformations is vital for early detection, intervention, and comprehensive care provision. Advances in genetics and neuroimaging offer hope for improved outcomes and better quality of life for affected individuals.
{"title":"Introduction: A Practical Guide to Central Nervous System Malformations—From Genetics, to Diagnosis and Treatment","authors":"A. Praticò, A. Polizzi, Martino Ruggieri","doi":"10.1055/s-0044-1786778","DOIUrl":"https://doi.org/10.1055/s-0044-1786778","url":null,"abstract":"Central nervous system (CNS) malformations encompass diverse congenital anomalies impacting brain and spinal cord development, profoundly affecting neurological function. They arise from disruptions in embryonic neural tube formation, neuronal migration, and cortical organization. This abstract provides a comprehensive overview of CNS malformations, covering classification, etiology, clinical manifestations, and diagnostic challenges. CNS malformations fall into distinct groups: neural tube defects (e.g., anencephaly, spina bifida), resulting from incomplete neural tube closure; malformations of cortical development (e.g., lissencephaly, polymicrogyria), featuring irregularities in cortical folding; and anomalies affecting structures like the corpus callosum, cerebellum, and CNS vasculature, alongside conditions such as hydrocephalus and Chiari malformations. Genetic factors, including mutations in LIS1, DCX, and RELN, contribute significantly, while environmental factors like maternal folic acid deficiency also play a role. Some malformations occur in genetic syndromes (e.g., tuberous sclerosis, neurofibromatosis). Clinical presentations vary, with neural tube defects typically presenting severe deficits at birth, while cortical malformations manifest as intellectual disabilities, seizures, and motor deficits. Hydrocephalus elevates intracranial pressure, and Chiari malformations cause headaches and neurological symptoms. Diagnosis necessitates a multidisciplinary approach involving clinical evaluation, neuroimaging, genetic testing, and histopathological analysis. Prenatal diagnosis via ultrasound and magnetic resonance imaging is crucial for planning interventions, while postnatal diagnosis relies on clinical and imaging findings.Understanding CNS malformations is vital for early detection, intervention, and comprehensive care provision. Advances in genetics and neuroimaging offer hope for improved outcomes and better quality of life for affected individuals.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140988512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Seyma Aktas Paskal, Fatih Yavuz, Huseyin Per, Ahmet Kucuk, Munis Dundar
L1 syndrome is a group of X-linked diseases caused by pathogenic variants in the human L1 cell adhesion molecule gene (L1CAM; OMIM 308840). The L1CAM gene is expressed primarily in the nervous system, where it plays important roles in neuronal development, including the guidance of neurite outgrowth, neuronal cell migration, axon bundling, synaptogenesis, myelination, neuronal cell survival, and long-term potentiation. L1 syndrome comprises a group of overlapping phenotypes including partial agenesis of corpus callosum, congenital X-linked hydrocephalus, and mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome. Molecular analysis was performed in four patients with congenital hydrocephalus (CH) and adducted thumbs. Three pathogenic variants were identified in the L1CAM gene, novel c.539dupA (p.Gln181Alafs*46) common to the two siblings, c.791G > A (p.Cys264Tyr) and c.1453C > T (p.Arg485*) variants. A correlation between genotype and phenotype has been reported in L1-related disorders. Two families with intrafamilial variability are presented and a novel pathogenic variant in the L1CAM gene has been reported. L1 syndrome should be considered primarily in patients with CH and adducted thumbs.
{"title":"L1 Syndrome-Associated Phenotypes and a Novel L1CAM Variant: A Clinical Report","authors":"Seyma Aktas Paskal, Fatih Yavuz, Huseyin Per, Ahmet Kucuk, Munis Dundar","doi":"10.1055/s-0044-1786157","DOIUrl":"https://doi.org/10.1055/s-0044-1786157","url":null,"abstract":"L1 syndrome is a group of X-linked diseases caused by pathogenic variants in the human L1 cell adhesion molecule gene (L1CAM; OMIM 308840). The L1CAM gene is expressed primarily in the nervous system, where it plays important roles in neuronal development, including the guidance of neurite outgrowth, neuronal cell migration, axon bundling, synaptogenesis, myelination, neuronal cell survival, and long-term potentiation. L1 syndrome comprises a group of overlapping phenotypes including partial agenesis of corpus callosum, congenital X-linked hydrocephalus, and mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome. Molecular analysis was performed in four patients with congenital hydrocephalus (CH) and adducted thumbs. Three pathogenic variants were identified in the L1CAM gene, novel c.539dupA (p.Gln181Alafs*46) common to the two siblings, c.791G > A (p.Cys264Tyr) and c.1453C > T (p.Arg485*) variants. A correlation between genotype and phenotype has been reported in L1-related disorders. Two families with intrafamilial variability are presented and a novel pathogenic variant in the L1CAM gene has been reported. L1 syndrome should be considered primarily in patients with CH and adducted thumbs.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140657993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Izabela Cristina Macedo Marques, Mara Lúcia Schmitz Ferreira Santos, Solena Ziemer Kusma Fidalski, Josiane de Souza, Daniel Almeida do Valle
Brown–Vialetto–Van Laere syndrome or riboflavin transporter deficiency is a rare and genetically determined condition that results in a spectrum of neurological signs and symptoms from generalized muscle weakness to cranial nerve involvement with medullary symptoms and respiratory failure. Most patients have SLC52A3 gene biallelic variants, but some of them may have impairment of SLC52A2 gene, both related to the cell transport of riboflavin. We report the case of three unrelated Brazilian patients under 18 years of age with this diagnosis confirmed by molecular genetic sequencing. We observed that the clinical manifestations found were compatible with those already described in the literature by age group. Unusual findings of retinitis pigmentosa and immunodeficiency were identified related to pathogenic variants in the SLC52A2 gene. All patients received riboflavin replacement at a therapeutic dose without gastrointestinal intolerance and with clinical improvement after starting treatment.
{"title":"Phenotypic Variability Related to Mutations in Riboflavin Transporter in Brazilian Children: Pediatric Case Series","authors":"Izabela Cristina Macedo Marques, Mara Lúcia Schmitz Ferreira Santos, Solena Ziemer Kusma Fidalski, Josiane de Souza, Daniel Almeida do Valle","doi":"10.1055/s-0044-1786159","DOIUrl":"https://doi.org/10.1055/s-0044-1786159","url":null,"abstract":"Brown–Vialetto–Van Laere syndrome or riboflavin transporter deficiency is a rare and genetically determined condition that results in a spectrum of neurological signs and symptoms from generalized muscle weakness to cranial nerve involvement with medullary symptoms and respiratory failure. Most patients have SLC52A3 gene biallelic variants, but some of them may have impairment of SLC52A2 gene, both related to the cell transport of riboflavin. We report the case of three unrelated Brazilian patients under 18 years of age with this diagnosis confirmed by molecular genetic sequencing. We observed that the clinical manifestations found were compatible with those already described in the literature by age group. Unusual findings of retinitis pigmentosa and immunodeficiency were identified related to pathogenic variants in the SLC52A2 gene. All patients received riboflavin replacement at a therapeutic dose without gastrointestinal intolerance and with clinical improvement after starting treatment.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140663697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-07-28DOI: 10.1055/s-0043-1771352
Alexander S Wang, Gabrielle Lemire, Grace E VanNoy, Christina Austin-Tse, Anne O'Donnell-Luria, Camilla Kilbane
DMN1L encodes for dynamin-like protein 1 (DLP1) which plays a key role in perixosomal and mitochondrial fission. Individuals with heterozygous variants in DNM1L present with a wide range of neurologic symptoms, including encephalopathy, epilepsy, and motor deficits. Here we report on a woman presenting with adolescence onset of sensory neuronopathy, spasticity, dystonia, and ataxia. Trio genome sequencing identified a heterozygous variant in DNM1L (NM_012062.3 c.121G>A/p.Val41Met) which was thought to be pathogenic. This case describes the latest known symptomatic onset of DMN1L-related disease described in literature. We highlight our approach to a challenging diagnostic workup and interpretation of a specific variant that has not been previously reported. Furthermore, the case highlights the diagnostic importance of utilizing genomic sequencing and research studies for patients with rare disease.
{"title":"DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.","authors":"Alexander S Wang, Gabrielle Lemire, Grace E VanNoy, Christina Austin-Tse, Anne O'Donnell-Luria, Camilla Kilbane","doi":"10.1055/s-0043-1771352","DOIUrl":"10.1055/s-0043-1771352","url":null,"abstract":"<p><p><i>DMN1L</i> encodes for dynamin-like protein 1 (DLP1) which plays a key role in perixosomal and mitochondrial fission. Individuals with heterozygous variants in <i>DNM1L</i> present with a wide range of neurologic symptoms, including encephalopathy, epilepsy, and motor deficits. Here we report on a woman presenting with adolescence onset of sensory neuronopathy, spasticity, dystonia, and ataxia. Trio genome sequencing identified a heterozygous variant in <i>DNM1L</i> (NM_012062.3 c.121G>A/p.Val41Met) which was thought to be pathogenic. This case describes the latest known symptomatic onset of <i>DMN1L-</i>related disease described in literature. We highlight our approach to a challenging diagnostic workup and interpretation of a specific variant that has not been previously reported. Furthermore, the case highlights the diagnostic importance of utilizing genomic sequencing and research studies for patients with rare disease.</p>","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10932615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76846779","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}
Oluwatosin E. Olorunmoteni, Joan I. Akande, Toluwani E. Babalola, Abiodun Kareem, Temiloluwa Taiwo Oyetoke, Champion Seun-Fadipe
Abstract Background Sleep problems are common in children with cerebral palsy (CWCP). However, the effect of sleep problems in CWCP on caregivers has not been well studied. We aimed to describe the sleep problems in CWCP and their caregivers, and explore the effect of the children's sleep on the caregivers' sleep. Methods This cross-sectional, mixed-methods research was conducted at a pediatric neurology clinic in Ile-Ife, Nigeria. The Sleep Disturbance Scale for Children (SDSC) and Pittsburgh Sleep Quality Index (PSQI) were used for assessing sleep problems of the children and their caregivers, respectively. We held three focused group discussions (FGDs) involving 18 caregivers using a pretested FGD guide. We analyzed the quantitative data using Stata-15 software, while qualitative data were transcribed and managed using ATLAS.ti Software. Results We studied 71 CWCP–caregiver dyads and 69 age- and sex-matched controls. There was a male preponderance for CWCP (M:F = 1.09:1) and female preponderance for caregivers (89.5%). Sleep disturbances (SDSC > 40) occurred in 34% of CP children and poor sleep quality was seen in 39% of caregivers. When compared with age- and sex-matched typically developing peers, there was a statistically significant higher sleep disturbance in CWCP (p = 0.009). Sleep difficulties in the CWCP comprise sleep–wake transition disorders (45.0%), difficulty initiating sleep (43.3%), and sleep breathing disorders (37.5%). Caregivers experienced short sleep duration. One mother said: “It affects my sleep, health, and work. It affects everything about me.” Conclusion Sleep problems in CWCP affect the well-being of their caregivers. Interventions targeted at both the children and their caregivers are needed.
{"title":"“It Affects Everything about Me”: Sleep Problems among Children with Cerebral Palsy and Their Caregivers in Ile-Ife—A Mixed-Methods Study","authors":"Oluwatosin E. Olorunmoteni, Joan I. Akande, Toluwani E. Babalola, Abiodun Kareem, Temiloluwa Taiwo Oyetoke, Champion Seun-Fadipe","doi":"10.1055/s-0043-1772211","DOIUrl":"https://doi.org/10.1055/s-0043-1772211","url":null,"abstract":"Abstract Background Sleep problems are common in children with cerebral palsy (CWCP). However, the effect of sleep problems in CWCP on caregivers has not been well studied. We aimed to describe the sleep problems in CWCP and their caregivers, and explore the effect of the children's sleep on the caregivers' sleep. Methods This cross-sectional, mixed-methods research was conducted at a pediatric neurology clinic in Ile-Ife, Nigeria. The Sleep Disturbance Scale for Children (SDSC) and Pittsburgh Sleep Quality Index (PSQI) were used for assessing sleep problems of the children and their caregivers, respectively. We held three focused group discussions (FGDs) involving 18 caregivers using a pretested FGD guide. We analyzed the quantitative data using Stata-15 software, while qualitative data were transcribed and managed using ATLAS.ti Software. Results We studied 71 CWCP–caregiver dyads and 69 age- and sex-matched controls. There was a male preponderance for CWCP (M:F = 1.09:1) and female preponderance for caregivers (89.5%). Sleep disturbances (SDSC > 40) occurred in 34% of CP children and poor sleep quality was seen in 39% of caregivers. When compared with age- and sex-matched typically developing peers, there was a statistically significant higher sleep disturbance in CWCP (p = 0.009). Sleep difficulties in the CWCP comprise sleep–wake transition disorders (45.0%), difficulty initiating sleep (43.3%), and sleep breathing disorders (37.5%). Caregivers experienced short sleep duration. One mother said: “It affects my sleep, health, and work. It affects everything about me.” Conclusion Sleep problems in CWCP affect the well-being of their caregivers. Interventions targeted at both the children and their caregivers are needed.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135192797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Pontine trigeminal root entry zone is a typical, although uncommon, location for multiple sclerosis (MS) lesions to occur. Here, we present a 17-year-old girl with nausea, vomiting, and vertigo. Neurological examination was consistent with central nystagmus, positive Romberg's test, and left-sided hyperreflexia. Baseline magnetic resonance imaging fulfilled McDonald 2017 criteria for MS and showed T2-hyperintense and T1-hypointense bilateral demyelinating lesions at the intramedullary portion of the trigeminal root of the fifth nerve, with no contrast enhancement or restricted diffusion. Bilateral intrapontine trigeminal involvement is a rare finding in MS, as well as the combined central and peripheral demyelination. Furthermore, very limited information and cases have been described in pediatric patients.
{"title":"A Rare Occurrence of Demyelinating Lesions of Bilateral Trigeminal Nerves: An Atypical Presentation of Pediatric Multiple Sclerosis","authors":"Elia Manfrini, Ludovica Falcioni, Vanna Cavassa, Eleonora Cocco, Stefano Sotgiu, Luca Saba","doi":"10.1055/s-0043-1772574","DOIUrl":"https://doi.org/10.1055/s-0043-1772574","url":null,"abstract":"Abstract Pontine trigeminal root entry zone is a typical, although uncommon, location for multiple sclerosis (MS) lesions to occur. Here, we present a 17-year-old girl with nausea, vomiting, and vertigo. Neurological examination was consistent with central nystagmus, positive Romberg's test, and left-sided hyperreflexia. Baseline magnetic resonance imaging fulfilled McDonald 2017 criteria for MS and showed T2-hyperintense and T1-hypointense bilateral demyelinating lesions at the intramedullary portion of the trigeminal root of the fifth nerve, with no contrast enhancement or restricted diffusion. Bilateral intrapontine trigeminal involvement is a rare finding in MS, as well as the combined central and peripheral demyelination. Furthermore, very limited information and cases have been described in pediatric patients.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135059276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Samuel C.S. Ho, K. Y. Leung, Grace S.F. Ng, W. L. Yiu, Eric K.C. Yau, N. C. Fong
Abstract Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a relapsing–remitting neurological disorder that falls within the stiff person syndrome–spectrum disorders. We report a 16-year-old girl with PERM associated with an anti-glutamic acid decarboxylase (GAD) antibody. She had an aggressive initial presentation mimicking fulminant septic shock, followed by truncal and lower limb rigidity, stimulus-sensitive spasm, cognitive impairment, brainstem signs (hyperekplexia, nystagmus), and dysautonomia (urinary retention, constipation, facial flushing, blood pressure fluctuation). Cerebrospinal fluid, electroencephalography, and magnetic resonance imaging of the brain and spine showed features suggestive autoimmune encephalitis and myelitis. The serum anti-GAD antibody was positive, and the diagnosis of PERM was made. She had fluctuating clinical response despite intravenous immunoglobulin, steroids, plasmapheresis, and symptomatic medications. Eventually, in the fourth month since admission, she showed gradual and persistent clinical improvement after introducing rituximab. She was discharged after 6 months of hospitalization, and no relapse was observed in the first 3 years of follow-up. PERM is a rare and underrecognized condition in children. Contrary to previous reports, our case describes an aggressive and life-threatening presentation for PERM. Vague symptoms and the lack of gold diagnostic tests hinder a timely diagnosis. Our study also highlights the need for developing standardized diagnostic criteria and consensus in managing PERM.
{"title":"Progressive Encephalomyelitis with Rigidity and Myoclonus with an Aggressive Presentation Mimicking Septic Shock: A Pediatric Case Report and Literature Review","authors":"Samuel C.S. Ho, K. Y. Leung, Grace S.F. Ng, W. L. Yiu, Eric K.C. Yau, N. C. Fong","doi":"10.1055/s-0043-1769478","DOIUrl":"https://doi.org/10.1055/s-0043-1769478","url":null,"abstract":"Abstract Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a relapsing–remitting neurological disorder that falls within the stiff person syndrome–spectrum disorders. We report a 16-year-old girl with PERM associated with an anti-glutamic acid decarboxylase (GAD) antibody. She had an aggressive initial presentation mimicking fulminant septic shock, followed by truncal and lower limb rigidity, stimulus-sensitive spasm, cognitive impairment, brainstem signs (hyperekplexia, nystagmus), and dysautonomia (urinary retention, constipation, facial flushing, blood pressure fluctuation). Cerebrospinal fluid, electroencephalography, and magnetic resonance imaging of the brain and spine showed features suggestive autoimmune encephalitis and myelitis. The serum anti-GAD antibody was positive, and the diagnosis of PERM was made. She had fluctuating clinical response despite intravenous immunoglobulin, steroids, plasmapheresis, and symptomatic medications. Eventually, in the fourth month since admission, she showed gradual and persistent clinical improvement after introducing rituximab. She was discharged after 6 months of hospitalization, and no relapse was observed in the first 3 years of follow-up. PERM is a rare and underrecognized condition in children. Contrary to previous reports, our case describes an aggressive and life-threatening presentation for PERM. Vague symptoms and the lack of gold diagnostic tests hinder a timely diagnosis. Our study also highlights the need for developing standardized diagnostic criteria and consensus in managing PERM.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135657283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tülay Yildirim Üşenmez, Gülbeyaz Baran Durmaz, F. Budak
Abstract This study aimed to determine the effect of internalized stigma on peer relationships in adolescents with attention-deficit/hyperactivity disorder (ADHD). The study was conducted in a Special Education and Rehabilitation Center between August and September 2022. The correlational and cross-sectional study sample consisted of 70 adolescents with ADHD. The Descriptive Characteristics Form, the Internalized Stigma Scale for Children and Adolescents, and the Peer Relationship Scale were used to collect the data. It was determined that the mean total score of internalized stigma levels of adolescents was 93.24 (16.16), and the mean total score of peer relationships was 53.78 (10.76). It was determined that there was a strong negative correlation between the total score of internalized stigma and peer relationships ( r = − 0.748, p = 0.001). In addition, it was determined that internalized stigma predicted peer relationships by 55%. It can be said that internalized stigma and peer relationships of adolescents are moderate, and as adolescents' internalized stigma levels increased, their peer relationships decreased.
摘要本研究旨在探讨内化污名对青少年注意缺陷多动障碍(ADHD)同伴关系的影响。这项研究于2022年8月至9月在一家特殊教育和康复中心进行。相关和横断面研究样本包括70名患有多动症的青少年。采用描述性特征表、儿童青少年内化污名量表和同伴关系量表收集数据。结果显示，青少年内化污名水平平均总分为93.24分(16.16分)，同伴关系平均总分为53.78分(10.76分)。内化污名总分与同伴关系呈显著负相关(r = - 0.748, p = 0.001)。此外，内化污名预测同伴关系的比例为55%。可以说，青少年内化污名对同伴关系的影响是适度的，随着青少年内化污名水平的增加，青少年的同伴关系会减少。
{"title":"Effect of Internalized Stigma on Peer Relationships in Adolescents with Attention-Deficit/Hyperactivity Disorder","authors":"Tülay Yildirim Üşenmez, Gülbeyaz Baran Durmaz, F. Budak","doi":"10.1055/s-0043-1772159","DOIUrl":"https://doi.org/10.1055/s-0043-1772159","url":null,"abstract":"Abstract This study aimed to determine the effect of internalized stigma on peer relationships in adolescents with attention-deficit/hyperactivity disorder (ADHD). The study was conducted in a Special Education and Rehabilitation Center between August and September 2022. The correlational and cross-sectional study sample consisted of 70 adolescents with ADHD. The Descriptive Characteristics Form, the Internalized Stigma Scale for Children and Adolescents, and the Peer Relationship Scale were used to collect the data. It was determined that the mean total score of internalized stigma levels of adolescents was 93.24 (16.16), and the mean total score of peer relationships was 53.78 (10.76). It was determined that there was a strong negative correlation between the total score of internalized stigma and peer relationships ( r = − 0.748, p = 0.001). In addition, it was determined that internalized stigma predicted peer relationships by 55%. It can be said that internalized stigma and peer relationships of adolescents are moderate, and as adolescents' internalized stigma levels increased, their peer relationships decreased.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89906729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vishal Chandra, A. Aggarwal, Amanda Moen, S. Strul, C. Özütemiz
Abstract FBXO11- related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11 -related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.
{"title":"Intracranial MRI Findings in a Patient with FBXO11 -Related Disorder","authors":"Vishal Chandra, A. Aggarwal, Amanda Moen, S. Strul, C. Özütemiz","doi":"10.1055/s-0043-1772491","DOIUrl":"https://doi.org/10.1055/s-0043-1772491","url":null,"abstract":"Abstract FBXO11- related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11 -related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82454430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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