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Neurofibromatosis type 1 - with cerebral hamartomas

Case contributed by Roberto Schubert
Diagnosis almost certain

Presentation

Known NF1 with typical stigmata. Blurred vision and headaches.

Patient Data

Age: 8 years
Gender: Male

Multple T2 moderately hyperintense lesions in the basal ganglia, the thalamus and hypothalamus, the brainstem and the dentate nuclei of the cerebellum. No signal alteration on DWI, no enhancement.

Case Discussion

Those lesions are hamartomas that had already been seen on an MRI performed on that patient at the age of 5. They belong to the typical central nervous system manifestation of type I neurofibromatosis.

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