Primary dural-based intracranial ewing sarcoma in a child: diagnostic challenges, management, and review of literature

Abstract Background Ewing’s sarcoma primarily involving the skull is an uncommon occurrence, representing approximately 1% of all reported cases. Only a limited number of such cases have been described in the literature. The principal diagnostic challenge lies in distinguishing these tumors from other small round blue cell neoplasms of the central nervous system (CNS), such as primitive neuroectodermal tumors (PNETs). Ewing’s sarcoma typically arises in bone and is not related to intraparenchymal embryonal CNS tumors. When the CNS is affected, the disease usually extends locally from the skull or epidural space, or less commonly, through intracranial or spinal metastases. Primary intracranial lesions are exceedingly rare and have been reported predominantly as dural-based tumors. Case presentation We report the case of an 8-year-old girl diagnosed with primary intracranial Ewing’s sarcoma involving the skull. The patient presented with progressive neurological symptoms and was managed at our institution. Radiological and histopathological assessments, supported by immunohistochemical analysis and molecular confirmation of the characteristic EWSR1 gene rearrangement, established the diagnosis. The patient received multimodality therapy within a multidisciplinary treatment framework. Conclusion Primary intracranial Ewing’s sarcoma is an exceptionally rare entity that may closely resemble other dural-based pediatric tumors. Accurate diagnosis necessitates a combination of histopathological, immunohistochemical, and molecular investigations. Early recognition and the implementation of a multimodal therapeutic strategy are essential for achieving optimal clinical outcomes.