Tumefactive demyelinating lesions are an uncommon manifestation of demyelinating disease that mimic primary central nervous system neoplasms and can pose a diagnostic challenge in patients without a pre-existing diagnosis of multiple sclerosis. Although a biopsy may be required to distinguish TDL from neoplasms or infection, certain ancillary and radiographic findings may preclude the need for invasive diagnostic procedures. We describe the case of a 15-year-old boy with a tumefactive demyelinating lesion involving the conus medullaris. An exhaustive systematic literature search of pediatric cases of TDL yielded an additional 78 cases. This review summarizes the current knowledge and recommendations for the diagnosis and management of this condition, highlighting the clinical, demographic, and radiologic features of 79 reported cases, including our own. Furthermore, it underscores areas of the literature where evidence is still lacking. Further research is needed to optimize clinical detection and medical management of this condition.
Keywords: conus medullaris; demyelination; multiple sclerosis; pediatric; spinal cord; tumefactive.