Germinoma Presenting With Optic Neuropathy: A Case Report and Literature Review
Nivethitha Manohar1, Alise Carlson2
1Neurological Institute, Cleveland Clinic, 2Neurological Institute, Mellen Center for Multiple Sclerosis Treatment and Research, Cleveland Clinic
Objective:
To identify germinoma as a differential for optic neuropathy.
Background:
Germinomas are rare, malignant germ cell tumors arising from the CNS. They typically occur in children or adolescents affecting the pineal and suprasellar regions. Optic nerve and chiasmal germinomas are often mistaken for neuroinflammatory processes or neoplastic etiologies such as glioma, potentially delaying diagnosis and appropriate treatment.
Design/Methods:
Case report details were extracted from the Cleveland Clinic EMR. Literature review was performed using PubMed search terms (((optic chiasm) OR (optic nerve))) AND (germinoma), restricted to publications in English from 2005-2025.
Results:
Twenty-three cases of germinoma with optic nerve or optic chiasm involvement were reported. Patients ranged from ages 9 to 34, with 9 males, 10 females, and 4 cases without sex data. Nearly all presented with progressive vision loss and poor visual acuity (96%, n=22). Endocrine abnormalities were reported in 17 cases, commonly diabetes insipidus (88%, n=15) or hypopituitarism (70%, n=12), with 13 showing abnormalities prior to/at presentation. MRI demonstrated thickening or enhancement of the optic nerve or optic chiasm in all cases. Of 12 cases reporting suspected pathology, 25% (n=3) were thought to have optic neuritis.
Our 19-year-old male patient similarly presented with progressive vision loss in the right eye and visual acuity decreased to finger counting. He lacked preceding endocrine abnormalities; though hypopituitarism was diagnosed later. MRI revealed right optic nerve and chiasmal enhancement with thickening and enhancement of the infundibulum and hypothalamus. Treatment with high-dose corticosteroids for suspected optic neuritis yielded minimal improvement. Repeat imaging demonstrated an enlarging hypothalamic lesion extending into the optic nerves. Stereotactic biopsy confirmed germinoma.
Conclusions:
Germinoma can present clinically and radiologically similar to neuroinflammatory processes affecting the optic nerve and chiasm. Including germinoma in the differential diagnosis for patients presenting with progressive vision loss and concomitant endocrine abnormalities can avoid delay of diagnosis and treatment.
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