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Case Presentation: Pediatric Ganglioglioma With a BRAF KIAA1549 Fusion
Patient Case:
A 1 year old boy was referred to the emergency department for further work up and management after head imaging was ordered by the pediatrician and showed hydrocephalus as well as a brain mass.
JJ was born at 39 weeks with vaginal delivery after an uneventful pregnancy. However, both parents remember that his head circumference started increasing slowly over the last 6 months from the 50th percentile to the 99th percentile. Additionally, he has been struggling with chronic vomiting, which is often forcible until he dry heaves. Furthermore, he has not been meeting his developmental milestones, and he had extensive work up which didn’t reveal any abnormalities. When the mother noticed that he had intermittent eye movement abnormalities, CT of the head was ordered by the pediatrician, and it showed marked hydrocephalus of both the lateral and 3nd ventricles along with a brainstem mass which expands the medulla and the pons and extends to the left inferior cerebellar peduncle. MRI of the head and spine confirmed the CT findings.
JJ was admitted to the hospital and a biopsy was performed. The results came back showing ganglioglioma WHO Grade I with BRAF KIAA1549 fusion. JJ was started on chemotherapy with carboplatin and vincristine. However, the first MRI after 3 months of therapy showed significant radiographic progression (40% increase on T2 FLAIR images) of the tumor.
