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Glioblastoma multiforme is the most common malignant primary brain tumor in adults. Histone H3 mutations have been identified in pediatric and adult gliomas, with H3K27M mutations typically associated with a posterior fossa midline tumor location and poor prognosis. Leptomeningeal disease is a known complication of histone-mutant glioma, but uncommon at the time of initial diagnosis. We describe a case of glioblastoma with H3K27M mutation that initially presented with progressive vision loss due to diffuse leptomeningeal disease in the absence of a mass lesion other than a small cerebellar area of enhancement and with cerebrospinal fluid cytology negative for malignant cells on two occasions, highlighting the importance of including primary CNS malignancies in the differential of diffuse radiographic leptomeningeal enhancement.

Highlights Drug-resistant epilepsy is a frequent complication of primary brain. FDG-PET can localize epileptogenic foci and guide surgical resection. Hypermetabolic focus identification and targeted resection can achieve seizure control.

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Introduction Catchment populations have several uses. A method using catchment population to estimate the incidence of sporadic Creutzfeldt–Jakob disease (sCJD) is described. Materials and Methods A cohort of nine consecutive patients diagnosed with sCJD, symptom onset spanning 26 months, were observed at a rural tertiary university medical center that has approximately 40,000 hospital discharges annually. An effective catchment population was determined using surrounding county utilization frequency that captured all nine sCJD patients and accounted for over 87% of discharges. Results The effective sCJD hospital catchment population was 1.266 million, implying an annual sCJD incidence rate of 3.39 per million (95% CIs, 1.55-6.43), assuming a Poisson distribution for sCJD occurrence. Conclusions This annual incidence rate suggests that many sCJD patients are unrecognized and unreported. An advantage of this catchment population method is independence from death certificate accuracy, important in rare diseases that are both rapidly and invariably fatal. The relative absence of significant healthcare systems competition in this rural population enhances the reliability of this finding. The most likely explanation for the high sCJD incidence rate suggested by this study is enhanced clinical suspicion and improved diagnostic accuracy.