Medulloblastoma Presenting As Isolated Leptomeningeal Enhancement With No Primary Mass

Medulloblastoma presenting with diffuse leptomeningeal enhancement and no identified intra-parenchymal primary mass is extremely rare. A 14-year-old previously healthy boy presented with a three-week history of symptoms consistent with increased intracranial pressure (ICP). Magnetic resonance imaging (MRI) revealed diffuse leptomeningeal enhancement which prompted consideration of infectious, inflammatory, and neoplastic etiologies. The patient became rapidly unstable requiring the placement of an external ventricular drain (EVD) and induction of a phenobarbital coma for refractory seizures. The “sugar-coated” appearance of the abnormal enhancement and thickened tissues raised concern specifically for malignancy. The patient remained extremely unstable and ultimately required surgical decompression for increased ICP at which time a biopsy was obtained. Despite attempting bridging intra-ventricular chemotherapy, the patient, unfortunately, passed away, just 14 days from the initial presentation. Final pathology later confirmed the diagnosis of medulloblastoma. Awareness of medulloblastoma in the differential of diffuse leptomeningeal enhancement is crucial for early identification and treatment of this rare presentation. This case is the first pediatric report of primary leptomeningeal medulloblastoma without a primary mass involving the large cell/anaplastic variant.