Intracranial Pure Germinoma With Optic Nerve Infiltration

Area of Science:

• Neuro-oncology
• Ophthalmology
• Endocrinology

Background:

• Intracranial germ cell tumors (GCTs) are rare neoplasms, with germinomas being the most common subtype.
• Primary involvement of the anterior visual pathways by intracranial germinomas is uncommon.
• This case highlights a diagnostic challenge in a young adult with progressive neurological and visual deficits.

Observation:

• A 19-year-old male presented with a 3-year history of headaches, hemiparesis, and progressive vision loss.
• Initial investigations, including MRI and empirical treatments for inflammatory conditions, were inconclusive.
• The patient later developed diabetes insipidus, severe cognitive decline, and spastic quadriparesis.

Findings:

• Cerebrospinal fluid (CSF) analysis revealed elevated beta human chorionic gonadotropin (β-hCG).
• Optic nerve biopsy confirmed an intracranial pure germinoma infiltrating the optic nerve and causing leptomeningeal disease.
• Tumor progression was noted despite treatment with corticosteroids, mycophenolate mofetil, and rituximab.

Implications:

• Intracranial pure germinomas should be considered in the differential diagnosis of young adults with unexplained visual pathway disorders.
• Elevated CSF β-hCG and diabetes insipidus are critical indicators for suspecting GCTs in such cases.
• Timely diagnosis and appropriate management of intracranial germinomas are essential for improving patient outcomes.