Presentation
Blurred vision and facial tics and cafe au lait spots.
Patient Data
Brain MRI demonstrates enlargement and faint enhancement of the bilateral optic pathway, including the optic nerves, chiasm, and tracts more prominent at the left side, with enhancing abnormal signal intensity at bilateral basal ganglia and brain stem. There is high signal intensity at hypothalamic region too.
Case Discussion
Neurofibromatosis type 1, also known as Von Recklinghausen disease is an autosomal dominant inherited neurocutaneous syndrome. The most common primary CNS tumors in children affected with NF1 are gliomas that usually involve optic pathways. In addition to tumors that grow on the optic nerves, similar tumors may grow in hypothalamus and brain stem in children with neurofibromatosis type 1.
Bilateral optic nerve glioma is pathognomic for NF1. low-grade cerebellar, brainstem, tectal plate, and basal gangelia glioma are also common. On MRI, tectal plate gliomas show no or mild enhancement.
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