Tissue Biopsy for Progressive Bilateral Optic Neuropathy Diagnosis: A Case Report

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Study researchers sought to evaluate the role of tissue biopsy in diagnosis of a patient with progressive bilateral optic neuropathy.

A case report of a patient presenting with bilateral vision loss led to the diagnosis, on the basis of tissue biopsy, of progressive bilateral optic neuropathy. These findings were published in Neurology Clinical Practice.

A man who was 23 years old presented at the Einstein Medical Center in the United States with progressive loss of vision in the left eye over the course of 4 months without headache, pain, or other neurologic symptoms. The patient also had weight loss of 40 pounds coupled with decreased appetite. He was previously diagnosed with hypothyroidism and presented with new depression, for which he was given sertraline.

Eye examination identified an afferent pupillary defect of the left eye as well as bilateral diffuse optic nerve pallor. Best corrected vision in the right eye was 20/50 with 7/14 color plates; for the left eye, his best corrected vision was 20/80 with 1/14 color plates. A visual field test indicated the patient had dense peripheral constriction of both eyes.

During magnetic resonance imaging (MRI), the patient presented with ill-defined areas of transverse relaxation time (T2) fluid-attenuated inversion recovery (FLAIR) hyperintensity of the optic nerves, optic radiation, optic chiasm, and pituitary stalk. The hyperintensity extended from the bi-frontal periventricular regions to the hypothalamus.

A lumbar puncture indicated the patient had elevated protein (121 mg/dL) and glucose (110 mg/dL), and lymphocyte predominance (72%). There was no observed malignancy.

On the basis of these observations, the clinicians suspected the patient most likely had a condition of an inflammatory etiology. He received therapy of intravenous steroids for several days, however, his vision continued to decline in both eyes.

Additional endocrinology assessment revealed the patient had diabetes insipidus and panhypopituitarism.

A biopsy of the anterior horn of the lateral ventricle identified a small cluster of abnormal cells with irregular nuclei and eosinophilic cytoplasm. The cells were positive for octamer binding transcription factor, placental alkaline phosphatase, spalt-like transcription factor 4, c-Kit, Ki-67, and was weakly positive for p53.

The clinicians concluded the patient had intracranial germinoma and he underwent external beam radiation.

The most recent follow-up eye exam indicated his vision had improved to 20/40 in the right eye and the left eye was able to detect hand motion.

The study authors concluded that a tissue biopsy was required to properly diagnose this patient with intracranial germinoma as all other assessments indicated an inflammatory condition.


Abdalla KMS, Tamhankar M, Prabhu AM. Bilateral Optic Neuropathy Mimicking Neuromyelitis Optica in the Setting of Intracranial Germinoma. Neurol Clin Pract. Published online April 27, 2021. doi:10.1212/CPJ.0000000000001101