[Clinical characteristics of six cases of neurofibromatosis type 1-associated infantile epileptic spasms syndrome].

Status Epilepticus as the Initial Presentation of Neurofibromatosis Type 1 in a Three-Year-Old Male: A Case Report

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant neurocutaneous disorder, occurring in approximately one in 2,500-3,000 live births. It results from mutations in the NF1 gene and is characterised by diverse cutaneous, ophthalmologic, and neurological manifestations. Although seizures occur in 4-10% of affe...

[Sturge-Weber syndrome: comparative analysis between clinical manifestations and neuro-radiological findings].

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease

Background and Objectives Enzyme replacement therapy has not only significantly improved motor outcome and survival in patients with classic infantile Pompe disease, but also revealed previously unrecognized central nervous system (CNS) involvement. In this international study, involving patients from the Netherlands,...

[Clinical features and prognosis of influenza-associated encephalopathy in children].

Clinical Management and Therapeutic Advances in Pediatric Patients with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder frequently complicated by plexiform neurofibromas (PN), which cause severe functional impairment and present a complex therapeutic challenge. Methods: This descriptive case series evaluates four pediatric patients diagnosed with NF1 and prog...

CLINICAL, PARACLINICAL CHARACTERISTICS AND CLASSIFICATION OF EPILEPSY SYNDROMES IN INFANTS AT CHILDREN’S HOSPITAL

Early-onset epilepsy in infancy exhibits heterogeneous features and the ILAE framework facilitates a systematic diagnostic approach and supports clinical management in pediatric patients.