Adult-Onset Central Nervous System Embryonal Tumor With Neuronal Differentiation: A Diagnostic Challenge

BACKGROUND Neuroblastoma is the most prevalent extracranial solid tumor in children. Primary central nervous system (CNS) neuroblastoma represents an exceedingly rare histological subtype. Adult-onset CNS embryonal tumors, including neuroblastoma, are particularly uncommon and remain poorly characterized in the medical literature. We present a case of suspected primary CNS neuroblastoma in an adult patient to highlight the diagnostic challenges and aggressive nature associated with this rare condition, particularly in resource-limited settings. CASE REPORT A 32-year-old woman presented with severe, progressively worsening headaches over several weeks that were unresponsive to over-the-counter analgesics. Due to symptom progression, she underwent urgent diagnostic evaluation. Initial non-contrast computed tomography of the brain identified a hyperdense lesion in the right temporal region suggesting acute intratumoral hemorrhage, accompanied by mass effect. Magnetic resonance imaging revealed a complex, heterogeneous, contrast-enhancing mass with internal hemorrhagic components and extensive surrounding vasogenic edema. Accordingly, the patient underwent neurosurgical resection. Histological examination of the resected specimen indicated an embryonal tumor, not otherwise specified, with neuronal differentiation. In the absence of advanced molecular profiling due to institutional resource limitations, primary CNS neuroblastoma remained a strongly suspected diagnosis rather than a definitive conclusion. CONCLUSIONS Primary CNS neuroblastoma in adults is an uncommon clinical entity that presents considerable diagnostic challenges and frequently mimics high-grade gliomas or metastatic lesions on radiographic imaging. This case underscores the aggressive nature of the tumor, the importance of including rare embryonal malignancies in the differential diagnosis, and the diagnostic challenges encountered when molecular confirmation is unavailable.