Neurofibromatosis type 1 - with focal areas of signal intensity

Case contributed by Dr Bruno Di Muzio

Presentation

Child with a long history of learning disabilities, presenting with multiple cafe au lait spots on the skin.

Patient Data

Age: 9-year-old
Gender: Male

There are multiple T2/FLAIR hyperintensities foci identified on both globus pallidus nuclei, thalami, pons, and cerebellum deep white matter. A solid nodule measuring less than 1 centimeter is identified in the inferior colliculi at the tectal plate, showing low signal on T1, hight T2/FLAIR signal and no contrast enhancement or diffusion restriction. 

Yellow arrows spotting the multiple high signal abnormalities on FLAIR and the solid nodule involving the tectal plate on the sagittal T1. 

Case Discussion

This patient was previously and clinically confirmed having NF1 (the exact criterias besides the cafe au lait spots were not available). Central nervous system manifestations of neurofibromatosis type 1 are relatively common. 

This case demonstrates focal areas of signal intensity (FASI), which are bright areas on T2-weighted images commonly identified in the basal ganglia (often the globus pallidus), thalamus, brainstem (pons), cerebellum, and subcortical white matter. 

The nodular lesion arising from the tectal plate is undetermined, however, in this context, the possibility of a tectal plate glioma must be considered, as this tumor has been associated with NF1. 

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Case information

rID: 40342
Published: 18th Oct 2015
Last edited: 18th Dec 2019
Inclusion in quiz mode: Included

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