OBJECTIVES: Opsoclonus-myoclonus syndrome (OMS) is a rare immune-mediated disorder of central nervous systems characterized by chaotic eye movements (opsoclonus), myoclonus, ataxia, and behavioral disturbances. OMS remai...OBJECTIVES: Opsoclonus-myoclonus syndrome (OMS) is a rare immune-mediated disorder of central nervous systems characterized by chaotic eye movements (opsoclonus), myoclonus, ataxia, and behavioral disturbances. OMS remains diagnostically challenging despite its recognizable clinical features. METHODS: We conducted a single-center cohort study of patients with OMS at a tertiary care children's medical center (2002-2024). Using the diagnostic odyssey plot methodology, we mapped individual diagnostic pathways, compared early (≤28 days) versus delayed (>28 days) diagnosis groups, and analyzed symptoms as well as patterns of diagnostic errors. RESULTS: Twenty cases were ascertained. Ten patients were diagnosed early (median 16.5 days), while the remaining experienced a delayed diagnosis (equal to or more than 28 days, median 124 days). Provisional diagnoses of acute cerebellar ataxia, acute disseminated encephalomyelitis, and acute cerebellitis were common. Analysis of symptoms revealed that nystagmus appeared at the same time in both the early- and delayed-diagnosed groups, but opsoclonus was recognized later in the delayed diagnosed group (11.5 days versus 96 days, p < 0.01). The presence or absence of neuroblastoma did not contribute to the diagnostic delay. CONCLUSIONS: The unique diagnostic journey of OMS is presented. Reconsidering the diagnosis in cases of prolonged or relapsing ataxia and recognizing opsoclonus early on are vital for the early detection of OMS.
INTRODUCTION: Vaccine-induced immune thrombocytopenia and thrombosis (VITT) is a rare disorder caused by antibodies against platelet factor 4 (PF4) triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2...INTRODUCTION: Vaccine-induced immune thrombocytopenia and thrombosis (VITT) is a rare disorder caused by antibodies against platelet factor 4 (PF4) triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines using non-replicable adenoviral vectors. It emerged during the pandemic, with patients typically presenting with thrombosis at uncommon sites, thrombocytopenia, and elevated D-dimer levels. VITT antibodies and heparin-dependent antibodies bind to distinct PF4 epitopes. Recently, VITT-like clinical, laboratory, and anti-PF4 antibody features have also been observed in patients with adenoviral infections. Only four pediatric cases of cerebral venous sinus thrombosis (CVST) have been reported. CASE REPORT: The patient was a previously healthy 2-year-old girl with no history of heparin exposure or SARS-CoV-2 vaccination. She presented with fever and was diagnosed with adenovirus infection. The fever resolved by day 4, but by day 6 she became increasingly lethargic and experienced vomiting. On day 12, Laboratory data showed severe thrombocytopenia and elevated D-dimer levels. Computed tomography revealed CVST along with a secondary hemorrhage in the right temporal lobe. She underwent hematoma removal with external/internal decompression and was started on continuous intravenous unfractionated heparin, and she was switched to warfarin. The thrombus decreased, platelet count spontaneously increased. Platelet activation assays using acute-phase serum identified a PF4-dependent platelet-activating antibody. CONCLUSION: We report a case of CVST in a 2-year-old girl following adenovirus infection. Unlike heparin-induced thrombocytopenia, where heparin exacerbates the condition, it is effective here by competitively inhibiting anti-PF4 antibody binding. In patients with prior adenovirus infection presenting with CVST and thrombocytopenia, anti-PF4 disorders should be considered.
BACKGROUND: Children with spastic cerebral palsy (CP) experience motor impairments and reduced physical activity, negatively impacting health and quality of life. OBJECTIVE: The study aimed to assess the effects of weara...BACKGROUND: Children with spastic cerebral palsy (CP) experience motor impairments and reduced physical activity, negatively impacting health and quality of life. OBJECTIVE: The study aimed to assess the effects of wearable exoskeleton robot-assisted gait training on physical activity, motor function, and quality of life in children with CP. METHODS: Ten children with spastic CP (mean age 9.20 ± 2.57 years; gross motor function classification system levels I-IV) received twelve 30-min sessions of robot-assisted gait training over six weeks at a university hospital rehabilitation center. Physical activity was measured using a tri-axial accelerometer to assess energy expenditure, metabolic equivalents (METs), intensity levels, vector magnitude counts per minute (VM CPM), and step counts. Motor function was evaluated using the Gross Motor Function Measure (GMFM), Timed Up and Go Test (TUG), and 6-Minute Walk Test (6MWT). Quality of life was assessed with the Cerebral Palsy Quality of Life questionnaire (CP-QOL). Repeated measures MANOVA and Cohen's d were used for statistical analysis. RESULTS: Significant improvements were observed in METs (p = 0.02, d = 0.38), light (p = 0.03, d = 0.51) and moderate physical activity time (p = 0.01, d = 0.42), and VM CPM (p = 0.02, d = 0.55), along with reduced sedentary time (p = 0.02, d = -0.49). Functional outcomes improved in GMFM (p<0.01, d = 0.22), TUG (p = 0.03, d = -0.33), and 6MWT (p = 0.02, d = 0.52). No significant changes were found in CP-QOL scores. CONCLUSION: Wearable robot-assisted gait training appears to enhance physical activity and mobility in children with spastic CP and may be considered a promising therapeutic intervention.
AIM: In order to clarify the characteristics of attention deficit hyperactivity disorder (ADHD) subtypes in Japanese children and the association with obesity based on body mass index (BMI)-standard deviation (SD) score,...AIM: In order to clarify the characteristics of attention deficit hyperactivity disorder (ADHD) subtypes in Japanese children and the association with obesity based on body mass index (BMI)-standard deviation (SD) score, we conducted a clinical survey of pediatric patients with ADHD. METHODS: We collected data for 115 patients diagnosed with ADHD. The patients were retrospectively divided into three groups according to subtype. Group 1 consisted of patients with predominantly inattentive ADHD (ADHD-I: n = 41, 35.7 %), Group 2 consisted of patients with predominantly hyperactive-impulsive ADHD (ADHD-HI: n = 6, 5.2 %), and Group 3 consisted of patients with a combined subtype (ADHD-C: n = 68, 59.1 %). The clinical features were analyzed for each group. RESULTS: The most common ADHD subtype was ADHD-C, followed by ADHD-I and ADHD-HI. At the time of diagnosis and at the most recently follow-up, the ADHD-Rating Scale (RS) scores for total in Group 3 were higher than those in Group 1 or Group 2, and trouble score (TS) at the time of diagnosis and the frequency of patients requiring ADHD drugs medicine were higher in Group 3. Further, the BMI-SD scores in children with ADHD were high at 0.38 ± 1.1. The frequency of patients with a BMI-SD score above 2.0 was 7.3 % (n = 3) in Group 1, 16.7 % (n = 1) in Group 2, and 8.8 % (n = 6) in Group 3, and 8.7 % in all patients. CONCLUSION: These results suggest that more careful follow-up is necessary for patients with ADHD-C than for those ADHD-I and ADHD-HI, and it is important to monitor the progress of ADHD children with obesity with the aim of improving their condition.
Ataş Y, Eraslan C, Ince T
… +18 more, Islamli J, Öcbe P, Toprak DE, Şen G, Ölçülü CB, Yilmaz Ö, Acar Ö, Ari GÇ, Görgülü G, Özkaya PY, Karapinar B, Ekemen C, Bal ZŞ, Şimşek E, Kanmaz S, Yilmaz S, Çalli C, Tekgül H
OBJECTIVE: To evaluate the clinical and radiological characteristics of cytotoxic lesions of the corpus callosum (CLOCC) in a pediatric cohort. METHODS: A pediatric CLOCC cohort consisting of 16 patients was derived from...OBJECTIVE: To evaluate the clinical and radiological characteristics of cytotoxic lesions of the corpus callosum (CLOCC) in a pediatric cohort. METHODS: A pediatric CLOCC cohort consisting of 16 patients was derived from the radiology database of a single tertiary institution, Ege Children's Hospital. The CLOCC diagnosis was based on previously established magnetic resonance imaging (MRI) criteria by Starkey et al.: (i) a small, round lesion centered in the splenium; (ii) a lesion centered in the splenium extending laterally through adjacent callosal fibers; or (iii) a lesion located posteriorly in the splenium extending anteriorly. The MRI characteristics of the study cohort were re-evaluated with those of other neurologic disorder groups with corpus callosum involvement: vascular lesions (n = 200); demyelinating disorders (n = 114); autoimmune encephalitis (n = 23); traumatic brain injury (n = 151). Etiology-specific diagnostic approaches, therapeutic challenges, and clinical outcomes were also analyzed. RESULTS: All patients displayed characteristic MRI features of CLOCC, including high signal on T2-weighted images, isointense-to-hypointense signal on T1-weighted images, and restricted diffusion on diffusion-weighted imaging (DWI), without contrast enhancement. The CLOCC lesions resolved within a median follow-up of 20 days (range: 5-150 days). The cohort was classified as infection-related CLOCC (62.5 %) and non-infectious CLOCC (37.5 %). The most frequent neurological symptoms at presentation were seizures (50 %) and altered consciousness (43.8 %). Immunotherapy was administered to 37.5 % of patients. None developed CLOCC-related neurological sequelae during the follow-up period. CONCLUSION: Pediatric CLOCC is predominantly associated with symptoms related to underlying etiologic diseases, presenting diagnostic and therapeutic challenges in certain neurological conditions. The CLOCC lesions exhibit highly homogeneous MRI findings, though clinical outcomes and lesion resolution times vary depending on specific etiologies.
Adrenoleukodystrophy (ALD) is a complex and devastating X-linked neurodegenerative disorder classified as rare brain disease with profound effects on patients and their families. It can manifest in various clinical forms...Adrenoleukodystrophy (ALD) is a complex and devastating X-linked neurodegenerative disorder classified as rare brain disease with profound effects on patients and their families. It can manifest in various clinical forms, ranging from adult-onset adrenomyeloneuropathy (AMN) to rapidly developing childhood cerebral adrenoleukodystrophy (CCALD), each presenting unique diagnostic and treatment challenges. At the molecular level, ALD results from mutations in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, which disrupts peroxisomal β-oxidation, leading to the accumulation of very long-chain fatty acids (VLCFAs) and subsequent neurological damage. Understanding these pathogenic mechanisms has led to significant improvements in diagnosis and treatment strategies. Advances such as newborn screening and molecular profiling have facilitated early detection and intervention, contributing to improved clinical outcomes. Therapeutic innovations, including gene therapy and hematopoietic stem cell transplantation (HSCT), hold promise for modifying disease progression and enhancing quality of life. Despite these developments, major challenges remain, including the identification of disease modifiers, discovery of new therapeutic targets, and establishing the personalized treatment strategies. This review summarizes the current understanding of ALD, including its clinical spectrum, molecular basis, diagnostic approaches, and emerging therapies. Ongoing research and interdisciplinary collaboration are crucial for establishing the effective management of this debilitating disorder.
OBJECTIVE: Heterozygous DHDDS variants have been associated with intellectual disability and seizures, with or without movement disorders. We aimed to expand the known phenotypic spectrum of DHDDS-related disorders by el...OBJECTIVE: Heterozygous DHDDS variants have been associated with intellectual disability and seizures, with or without movement disorders. We aimed to expand the known phenotypic spectrum of DHDDS-related disorders by elucidating the clinical characteristics of Japanese patients with recurrent DHDDS variants. METHODS: Patients with pathogenic DHDDS variants were recruited from individuals diagnosed with developmental and epileptic encephalopathy or progressive myoclonus epilepsies who were treated at the Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, or the Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine. DHDDS pathogenic variants were identified using exome sequencing. Medical records and neurophysiological data were retrospectively reviewed. RESULTS: Three de novo recurrent pathogenic DHDDS variants were identified in four patients: c.632G>A, p.(Arg211Gln) in two; c.614G>A, p.(Arg205Gln) in one; and c.110G>A, p.(Arg37His) in one. Three patients with p.(Arg211Gln) or p.(Arg37His) presented with severe intellectual disability and intractable generalized epilepsy, characterized by myoclonic, myoclonic-atonic, and atonic seizures. Eyelid myoclonia was the initial manifestation in infancy. One patient with p.(Arg205Gln) had a relatively mild course, with focal epilepsy and less severe intellectual disability. Myoclonus and tremor were present from infancy in two patients with p.(Arg211Gln) or p.(Arg37His), and from childhood in the patient with p.(Arg205Gln). One patient with p.(Arg211Gln) exhibited polymicrogyria in the right frontal lobe. Among the three patients with generalized epilepsy, fenfluramine effectively reduced myoclonic seizures in one, while total corpus callosotomy markedly reduced myoclonic-atonic or atonic seizures with falls in another. CONCLUSION: DHDDS-related disorders should be considered in patients with intellectual disability, epilepsy with early-onset eyelid myoclonia and myoclonic or myoclonic-atonic seizures, and movement disorders, including myoclonus and tremor, with slow progression. We identified polymicrogyria as a novel finding in DHDDS patients. For drug-resistant epilepsy in these patients, corpus callosotomy and fenfluramine may represent promising treatment options, with this report providing specific insights into their efficacy.
INTRODUCTION: Non-REM parasomnias are common in childhood, yet studies investigating their clinical and polysomnographic features remain limited. This study aimed to assess the clinical and sleep characteristics of child...INTRODUCTION: Non-REM parasomnias are common in childhood, yet studies investigating their clinical and polysomnographic features remain limited. This study aimed to assess the clinical and sleep characteristics of children diagnosed with non-rapid eye movement (non-REM) parasomnias and to describe the semiological features of episodes confirmed by video-polysomnography (vPSG). METHOD: We retrospectively evaluated 88 children (2-18 years) referred with abnormal nocturnal motor behaviors who underwent overnight vPSG between 2016 and 2023. Demographic and clinical data, comorbidities, and electroencephalography (EEG) findings were recorded. In cases with observed parasomnia episodes on vPSG, motor patterns, EEG, electrocardiography (ECG) characteristics, and Frontal Lobe Epilepsy-Parasomnia (FLEP) scale scores were analyzed. Parasomnia episodes were classified based on motor complexity: simple, rising, and complex arousal movements. RESULTS: Sixty-nine (78.4 %) patients referred for abnormal nocturnal behaviors were diagnosed with non-REM parasomnias by International Classification of Sleep Disorders-3 (ICSD-3), 20 (29 %) had confirmed episodes during vPSG (15 confusional arousal, 4 sleep terror, 1 somnambulism). Most episodes (91.1 %) occurred during N3 sleep. Simple arousal was the most common pattern (88.2 %). Episodes with complex motor features were longer and associated with autonomic signs such as tachycardia. Patients with comorbid epilepsy had a lower vPSG-confirmation rate (5.2 %) and higher FLEP scores. Electroencephalogram patterns included hypersynchronous delta and mixed-frequency theta-alpha activity. CONCLUSION: This study characterized the semiological features of non-REM parasomnia episodes in pediatric patients. Although vPSG findings contributed to the objective description of motor patterns, the current data are not sufficient to conclude that vPSG is definitively useful for differential diagnosis. However, vPSG may aid in clarifying symptom profiles and excluding other comorbid conditions.
BACKGROUND: Idiopathic intracranial hypertension (IIH) is a condition characterized by increased cerebrospinal fluid (CSF) pressure without an identifiable cause. Although neuroimaging features are often used to support...BACKGROUND: Idiopathic intracranial hypertension (IIH) is a condition characterized by increased cerebrospinal fluid (CSF) pressure without an identifiable cause. Although neuroimaging features are often used to support diagnosis, the relationship between CSF pressure and MRI findings remains unclear, particularly in pediatric populations. OBJECTIVE: To investigate the association between CSF opening pressure and clinical as well as MRI features in children diagnosed with IIH. METHODS: We retrospectively reviewed 30 pediatric patients (aged 6-18 years) diagnosed with IIH between 2015 and 2020. Patients were divided into two groups based on CSF opening pressure: Group 1 (200-350 mm H₂O) and Group 2 (≥350 mm H₂O). Clinical symptoms and MRI features-including optic nerve sheath dilation, posterior globe flattening, optic nerve tortuosity, and transverse sinus stenosis-were compared between groups. RESULTS: The mean CSF opening pressure was 363.8 mm H₂O. No statistically significant differences were observed between groups with respect to demographic features, clinical symptoms, or MRI abnormalities (p > 0.05). The most frequent imaging findings were posterior globe flattening (73.3 %) and optic nerve sheath dilation (70 %). Spearman correlation analysis demonstrated a significant positive association between CSF opening pressure and optic nerve sheath dilation (r = 0.417, p = 0.022), with borderline correlations noted for optic nerve tortuosity (r = 0.358, p = 0.052) and transverse sinus stenosis (r = 0.438, p = 0.069). DISCUSSION: CSF opening pressure alone did not distinguish clinical or imaging features between groups. However, higher pressures correlated with optic nerve sheath dilation and showed trends toward tortuosity and venous stenosis, suggesting these may be secondary markers of disease severity. CONCLUSION: Pediatric IIH appears multifactorial rather than purely pressure-driven. Multimodal evaluation is essential, and larger prospective studies are warranted to clarify the prognostic value of imaging correlates.
INTRODUCTION: We report a pediatric case of frontal lobe epilepsy with seizures characterized by the "chapeau de gendarme (CdG)" sign and a three phase-ictal scalp EEG (3Ph-EEG) pattern, suggesting a seizure focus in the...INTRODUCTION: We report a pediatric case of frontal lobe epilepsy with seizures characterized by the "chapeau de gendarme (CdG)" sign and a three phase-ictal scalp EEG (3Ph-EEG) pattern, suggesting a seizure focus in the interhemispheric fissure (IHF) cortex. CASE REPORT: An 8-year-old boy with autism spectrum disorder (ASD) presented with daily episodes of impaired consciousness, staring, and bilateral tonic posturing of the upper limbs, accompanied by stiffening and drooping of both corners of the mouth. These episodes were initially misdiagnosed as behavioral disturbances in patients with ASD. Video-scalp EEG at age 11 revealed a 3Ph-EEG pattern: 1) brief β bursts in the left frontal region; 2) diffuse attenuation; and 3) rhythmic activity evolving from β to δ frequencies over the left fronto-centro-parietal regions. Seizure semiology and EEG findings were consistent with a seizure focus in the anterior IHF cortex, including the cingulate gyrus. Although valproate and levetiracetam were ineffective, lacosamide (LCM) effectively controlled the seizures, and its efficacy was sustained over a 3-year follow-up period. DISCUSSION: The combination of CdG and 3Ph-EEG patterns may serve as clinical and electrophysiological markers for seizures originating in the frontal IHF cortex. Therefore, LCM may be an effective treatment option for such cases. This case underscores the importance of detailed seizure semiology and EEG interpretation for accurate localization.
Therapeutic instrumental music performance (TIMP) can be used to improve limb motor function in children with cerebral palsy (CwCP). The purpose of this systematic review is to further analyze the potential therapeutic e...Therapeutic instrumental music performance (TIMP) can be used to improve limb motor function in children with cerebral palsy (CwCP). The purpose of this systematic review is to further analyze the potential therapeutic effects of TIMP on upper limb motor function in CwCP. We used the terms ""music,"" ""therapeutic instrumental music performance,"" ""musical instruments,"" ""cerebral palsy,"" ""children,"" ""upper limb,"" and ""upper extremity"" as our search keywords, and conducted a search of articles published in English and Chinese databases: PubMed, Cochrane, Web of Science, Wiley Online Library, CINAHL, and CNKI, Wanfang Data as of March 2025. Initially, 409 articles were retrieved. After screening titles and abstracts and assessing eligibility, eight studies were included in this review. All studies assessed hand fine motor function, and five also evaluated upper limb gross motor function. Three studies used only keyboard instruments, two exclusively percussion instruments, and three combined keyboard, percussion, and plucked instruments. The results demonstrated that TIMP effectively improves upper limb motor function in CwCP.