Neurological

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

A case report of a patient with bilateral vision loss led to a diagnosis of progressive bilateral optic neuropathy based on a tissue biopsy. These results were published in Neurology Clinical Practice.

A 23-year-old male presented to Einstein Medical Center in the United States with progressive loss of vision in the left eye over 4 months with no headache, pain, or other neurological symptoms. The patient also had a 40 pound weight loss associated with decreased appetite. He was previously diagnosed with hypothyroidism and presented with a new type of depression for which he was given sertraline.

The eye examination revealed an afferent pupillary defect in the left eye and diffuse paleness of the optic nerve on both sides. The best corrected right eye vision was 20/50 with 7/14 color panels; for the left eye his best corrected vision was 20/80 with 1/14 color tables. A visual field test showed that the patient had a dense peripheral narrowing of both eyes.

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During magnetic resonance imaging (MRI), the patient presented with poorly defined areas of transverse relaxation time (T2) of fluid-saturated inversion recovery (FLAIR) hyperintensity of optic nerves, visual radiation, optic nerve junction, and pituitary stalk. The hyperintensity extended from the bifrontal periventricular regions to the hypothalamus.

A lumbar puncture showed that the patient had elevated proteins (121 mg / dl) and glucose (110 mg / dl) and lymphocyte predominance (72%). No malignancy was observed.

Based on these observations, the clinicians suspected that the patient most likely had an inflammatory etiology. He received intravenous steroid therapy for several days, but his eyesight continued to deteriorate in both eyes.

An additional endocrinological examination revealed that 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, split-like transcription factor 4, c-Kit, Ki-67 and were weakly positive for p53.

The clinicians concluded that the patient had an intracranial germinoma and was undergoing external radiation.

The last eye exam showed that his eyesight in the right eye had improved to 20/40 and the left eye was able to detect hand movements.

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

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Abdalla KMS, Tamhankar M, Prabhu AM. Bilateral optic neuropathy mimicking neuromyelitis optica as part of an intracranial germinoma. Neurol Clin practice. Published online April 27, 2021. doi: 10.1212 / CPJ.00000000000001101

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