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.

To evaluate the clinical and radiological characteristics of cytotoxic lesions of the corpus callosum (CLOCC) in a pediatric cohort.

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.

Children with spastic cerebral palsy (CP) experience motor impairments and reduced physical activity, negatively impacting health and quality of life.

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.

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.

Epilepsy is a chronic brain disorder characterized by recurrent seizures. Limited data on childhood epilepsy in Cameroon prompted this study.

We aimed to analyze the prevalence, clinico-radiological and genetic features, and outcomes in children with Alexander disease (AD) with special emphasis on atypical presentations.

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).

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.

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.

Antiseizure medications (ASM) are essential for patients with epilepsy. Though prenatal exposure to ASMs is associated with increased risk for malformations and neurocognitive problems, whether prenatal ASM exposure modifies offsprings' natural developmental trajectory has not yet been studied.