Abstract / Summary
Abstract Background Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare, predominantly pediatric, central nervous system (CNS) neoplasm characterized by leptomeningeal dissemination, distinct molecular alterations, and highly variable clinical behavior. Since its formal recognition as a separate entity in the 2016 World Health Organization (WHO) CNS classification, fewer than 100 molecularly confirmed cases have been reported. Among these cases, a spectrum of clinical, radiological, and molecular presentations remains incompletely defined. Methods We conducted a systematic review in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. PubMed, Scopus, and Web of Science were searched for all pediatric DLGNT case reports and case series. Data were extracted on demographics, presenting symptoms, imaging characteristics, histopathology, molecular alterations, treatment, and outcomes. Results A total of 68 pediatric cases were identified from 49 studies. The average age was 7.7 years. Patients regularly present with headache, vomiting, and gait disturbances, usually precipitated by communicating hydrocephalus, which is the predominant neuroimaging pattern alongside diffuse leptomeningeal enhancement. KIAA1549::BRAF fusion and 1p deletion were the most frequently reported molecular abnormalities. Treatment methods varied widely, with heterogeneous clinical outcomes. Conclusions The presented case adds to the expanding understanding of the clinical and geographic heterogeneity of DLGNT. Our systematic review highlights consistent radiological signatures but substantial variability in treatment strategies and outcomes, underscoring the need for earlier recognition, standardized diagnostic pathways, and collaborative prospective studies to guide optimal management of this rare tumor.