Abstract Paroxysmal events in infancy may arise from both epileptic and nonepileptic causes. These two conditions are often confused with each other, and distinguishing between them can sometimes be challenging. A 9-month-old male infant was evaluated for seizure-like episodes. During the episodes, consciousness was preserved, interaction with the environment continued, and no forced eye deviation or postictal findings were observed. Clinically, rhythmic head movements, orofacial activities, and low-amplitude extremity movements were noted. Laboratory investigations revealed vitamin B12 deficiency and concomitant iron deficiency anemia. Following vitamin B12 and iron replacement therapy, the episodes completely resolved and significant clinical improvement was observed. This case highlights the importance of detailed history-taking, video analysis, and metabolic evaluation in the assessment of seizure-like episodes in infants. It also demonstrates that early recognition of treatable conditions plays a critical role in preventing misdiagnosis of epilepsy.
A bstract Posterior reversible encephalopathy syndrome (PRES) is a distinct clinico-radiological entity observed especially in cases of renal disorders, hypertension, immunosuppressive agent use, and malignancy. We describe an adolescent girl with lupus nephritis who presented with atypical neuroimaging of PRES. She improved with blood pressure control and anti-seizure medication. This case highlights atypical radiological features of PRES in autoimmune and renal disease, emphasizing early recognition and prompt management to prevent irreversible neurological injury.
Abstract Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare infection-associated condition identified by clinical and radiological features. It typically presents with febrile seizures followed by a second seizure cluster with encephalopathy after 4–6 days, often showing a bright tree appearance on magnetic resonance imaging. We report three cases, all female patients aged 2, 2.5, and 3 years, demonstrating biphasic illness patterns and bilateral diffusion restriction sparing the peri-rolandic regions. Two of them experienced super-refractory status epilepticus; one developed right-sided hemiparesis. They required mechanical ventilation and treatment with pulse-dose methylprednisolone and antiepileptics. Staphylococcus aureus was identified in one case, with likely viral causes in the others. This series highlights AESD’s severity, management, and prognosis, stressing the need for clinician and radiologist awareness for accurate diagnosis and effective treatment.
A bstract Background: Febrile seizures are the most common seizure disorder in early childhood. Alterations in serum electrolytes have been proposed as contributory factors, but evidence remains inconsistent. Materials and Methods: A hospital-based case–control study was conducted in children aged 6–60 months. A total of 38 children with febrile seizures were compared with 38 age-matched febrile controls without seizures. Serum magnesium and phosphorus levels were measured at admission and compared using appropriate statistical tests. Results: The mean serum magnesium levels were significantly lower in children with febrile seizures than in febrile controls ( P < 0.05). Serum phosphorus levels did not differ significantly between the two groups. Conclusion: Lower serum magnesium levels were associated with febrile seizures, whereas serum phosphorus levels showed no significant association.
A bstract This study evaluates the impact of an integrated physiotherapy program on a 9-month-old male with Cri du Chat syndrome, a genetic condition characterized by hypotonia, microcephaly, malnutrition, and dysphagia. To improve his health and well-being, the patient underwent a 6-week intervention combining oral stimulation and gross motor training, including Swiss ball exercises and proprioceptive neuromuscular facilitation techniques. The results demonstrated significant progress in both developmental delay and nutritional safety: the Dysphagia Severity Scale score improved from level 5 to 7, whereas the Trivandrum Developmental Screening Chart score increased from 5 to 7. By fostering neuroplasticity and functional independence, such programs provide a pathway toward improved quality of life and long-term health equity for children with rare genetic disorders.
A bstract Monitoring copper metabolism during chelation therapy in children with neuro-Wilson disease (NWD) remains challenging, particularly given inter-individual variability and heterogeneous treatment strategies. In this prospective observational case series conducted over 18 months, serial biochemical parameters were evaluated in ten children diagnosed with NWD receiving chelation therapy. Parameters included serum copper, non-ceruloplasmin bound copper (NCC), serum ceruloplasmin, liver function tests, and 24-h urinary copper excretion. Patients received D-penicillamine and/or zinc as part of routine clinical care. Data are presented descriptively as median (interquartile range). At follow-up, median serum copper and NCC levels showed a numerical decline from baseline, whereas 24-h urinary copper excretion demonstrated substantial inter-individual variability. Serum ceruloplasmin levels were lower at follow-up, consistent with expected treatment-related effects. Liver enzymes remained largely stable over the observation period. No consistent, statistically significant changes were observed across biochemical parameters. This small prospective series highlights the marked biochemical variability observed in children with NWD undergoing chelation therapy in real-world settings. Serial monitoring of NCC and urinary copper may be useful for individual treatment titration; however, interpretation must be cautious given treatment heterogeneity and limited sample size. Larger, standardized, longitudinal studies are needed to define optimal biochemical targets in pediatric NWD.
A bstract Background: Incidental intracranial findings (IIFs) are frequently detected on pediatric brain magnetic resonance imaging (MRI), particularly with the increasing use of neuroimaging for common neurological complaints. While many of these findings represent benign developmental variants, a subset may carry clinical significance, leading to variability in reporting, follow-up, and management. Objectives: This study aimed to determine the prevalence, radiological spectrum, and clinical relevance of IIFs in children undergoing brain MRI for neurological indications, and to inform evidence-based management strategies. Materials and Methods: This retrospective cross-sectional study included 350 children (0–18 years) who underwent brain MRI at a tertiary pediatric neurology center between January 2019 and December 2023. MRIs performed for nonacute neurological indications were reviewed using a standardized pediatric imaging protocol. IIFs were defined as previously unknown abnormalities unrelated to the presenting complaint and were categorized based on predefined radiological criteria. Prevalence estimates were calculated with 95% confidence intervals, and findings were stratified by clinical significance and follow-up requirements. Results: IIFs were identified in 70 out of 350 children, yielding an overall prevalence of 20.0%. Clinically insignificant findings accounted for 12.9% of the cohort, whereas clinically significant findings were observed in 7.1%. The most common lesions included arachnoid cysts (21.4%), pineal cysts (14.3%), nonspecific white matter hyperintensities (11.4%), and Chiari I malformation (7.1%). No follow-up was required in 40.0% of cases, routine surveillance in 24.3%, specialist referral in 28.6%, and surgical intervention in 7.1%. Conclusions: IIFs are more common in pediatric brain MRI, yet the majority are benign and do not necessitate intervention. Standardized classification, risk-stratified follow-up, and clear counseling frameworks are crucial for reducing unnecessary investigations while ensuring the timely identification of clinically relevant abnormalities.”
A bstract Langerhans cell histiocytosis (LCH) is a rare pediatric disorder with heterogeneous clinical manifestations, frequently involving the skeletal system. Here, we report a case of a young girl presenting with multiple painless, progressively enlarging scalp swellings, initially suggestive of a benign etiology. Imaging revealed a large osteolytic calvarial defect along with an additional lytic lesion involving the left ninth rib, raising suspicion of multifocal LCH. Considering the high risk of hemorrhage associated with scalp biopsy, a rib lesion biopsy was performed, which confirmed the diagnosis on histopathology and immunohistochemistry (CD1a and S-100 positivity). The patient was treated with systemic chemotherapy using vinblastine and corticosteroids with a favorable early response. This case report highlights the importance of considering LCH in the differential diagnosis of atypical scalp swellings in children and emphasizes the role of judicious biopsy site selection to minimize procedural risk while ensuring diagnostic accuracy.
A bstract Ependymomas commonly arise in the posterior fossa in children and typically display classical glial architecture. However, true mesenchymal metaplasia in the form of cartilaginous or osseous differentiation is exceedingly rare and may pose significant diagnostic challenges. We report a rare case of a posterior fossa ependymoma with anaplastic histology, exhibiting chondro-osseous metaplasia in an 18-month-old girl. The patient presented with recurrent vomiting, seizures, headache, and visual disturbance. Magnetic resonance imaging revealed a heterogeneously enhancing posterior fossa mass arising from the fourth ventricle with inferior extension to the C2 level. Near-total surgical excision was performed. Histopathological examination demonstrated a hypercellular tumor composed of glial cells arranged in classical perivascular pseudorosettes and occasional true ependymal rosettes, with microvascular proliferation and necrosis. Notably, multiple well-formed foci of mature cartilage and bone were identified within the tumor, confirming chondro-osseous metaplasia. This rare histological variant can mimic other matrix-producing posterior fossa neoplasms, potentially leading to misdiagnosis. Recognition of classical ependymal features is therefore critical for accurate classification. Reporting such uncommon variants expands the morphological spectrum of ependymomas and underscores the importance of meticulous histopathological evaluation.
A bstract This case report describes the administration of intra-arterial chemotherapy (IAC) with melphalan in a 3-week-old neonate with bilateral Group D retinoblastoma (RB), reported from a neurosurgery center in Uzbekistan. IAC is generally avoided in infants under 6 months of age due to technical challenges, and published experience in neonates under 1 month of age remains limited. The infant presented with bilateral leukocoria and was diagnosed through ophthalmologic and ultrasonographic assessments. Three cycles of IAC were administered at 21-day intervals with weight-adjusted melphalan dosing. The treatment was well tolerated, with no procedural complications. Tumor regression and stabilization were achieved across all cycles, supporting the potential of IAC as a globe-salvaging approach in neonates with advanced intraocular RB. IAC is a well-established globe-salvaging approach for advanced intraocular RB. Its use in neonates under 1 month of age is rare and technically demanding. This case contributes to the limited published experience in this age group; highlights the feasibility, safety, and efficacy of early IAC intervention; and offers valuable clinical insights for managing similar cases in resource-limited settings.
