Background:
Concurrent diagnosis of multiple sclerosis (MS) and the central nervous system (CNS) germinoma is rare. The diagnostic criteria for MS rely primarily on clinical presentation, and CNS germinoma can present as an MS mimic. These factors contribute to the rarity of dual diagnosis.
Case description:
A 28-year-old man presented initially with bilateral optic neuritis, manifesting as persistently worsening vision for 2 years, and demyelinating plaques identified within the corpus callosum on magnetic resonance imaging. Initial work-up, in addition to clinical presentation, led to diagnosis of MS. Three months following the diagnosis of MS, the patient then presented with obstructive hydrocephalus due to a newly diagnosed intraventricular mass. The patient underwent an endoscopic third ventriculostomy and biopsy which confirmed diagnosis of CNS germinoma.
Conclusion:
To the best of our knowledge, dual presentation of both MS and CNS germinoma has never been reported in the literature. The clinical presentation of bilateral optic neuritis (persisting for roughly 2 years before initial MS diagnosis), demyelinating plaques, and intrathecal oligoclonal bands before the development of an intraventricular mass indicates that both MS and CNS germinoma presented simultaneously in this patient. The treatment plan for this patient included carboplatin + etoposide, followed by adjuvant radiation and subsequent IVIG therapy.