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Case Presentation: Pediatric Low-Grade Glioma
Patient Case
A 3-month-old male was presented to his pediatrician with new onset bilateral nystagmus, who was otherwise determined to be developing normally at his 2-month well-child visit. His mother reported that he was feeding well without concerns of vomiting, change in sleep-wake patterns, or changes in behavior.
A brain MRI was prompted through the evaluations of both pediatric neurology and ophthalmology services over the course of a month, demonstrating a bilateral optic pathway glioma. There is no family history of neurofibromatosis-1 (NF-1), and a thorough examination did not reveal any café-au-lait macules, inguinal or axillary freckling, or Lisch nodules. Based on the location and appearance of the tumor on imaging, a biopsy is not required for initiation of treatment, particularly when the location poses substantial risks for a biopsy. Due to the patient’s age and high-risk of progression of a non–NF-1 optic glioma with vision loss, he was started on front-line chemotherapy with intravenous carboplatin.
His first 3-month interval brain MRI demonstrated significant progression despite treatment. Due to imaging evidence of progressive disease in the setting of worsened nystagmus, a stereotactic biopsy of the tumor was safely and successfully obtained for more diagnostic determination. The pathology was consistent with a pilocytic astrocytoma and molecular analysis revealed a BRAF-V600E mutation.
