DIFFUSE CNS GERM CELL NEOPLASM PRESENTING WITH PROGRESSIVE ENCEPHALOPATHY: 3 CASES

Objectives: To report three cases of children with progressive encephalopathy and right hemiparesis, MRI notable for diffuse white matter abnormality with no focal tumor, all diagnosed with CNS germ cell neoplasm.

Methods: All three patients presented with progressive aphasia, behavioral changes and right hemiparesis. Each underwent serial neurologic and endocrinologic evaluation, neuroimaging, and lumbar puncture. Because of diagnostic uncertainty, one patient underwent brain biopsy.

Results: All three patients were diagnosed with diffuse CNS germ cell neoplasm. Two of the patients were diagnosed by measurement of serum and CSF hormone levels. The other patient required diagnostic biopsy from the region of abnormal white matter. All three patients were treated with chemotherapy, and two also received craniospinal radiation therapy. Neurologic symptoms of all three patients improved partially with cytotoxic chemotherapy. All three patients are alive without evidence of disease.

Conclusion: CNS germ cell neoplasm may present with progressive encephalopathy, without typical radiographic evidence of tumor. Endocrinologic abnormality may or may not be present. This diagnostic entity should be included in the differential diagnosis of progressive leukoencephalopathy, and should be included with gliomatosis as a potential motivation for brain biopsy.