Neurofibromatosis type 1

Case contributed by Mahesh Gautam
Diagnosis almost certain


Progressive loss of vision of the left eye.

Patient Data

Age: 6 years
Gender: Female

MRI brain demonstrates multiple focal areas of high signal in T2WI/FLAIR images in bilateral globus pallidus and cerebellar hemispheres without contrast enhancement. Both the optic nerves are enlarged. On the left, it involves the intraorbital and cisternal segment which extends to the optic chiasm and the optic tract. On the right, it involves the cisternal segment. The enlarged segment is isointense in T1WI and slightly hyperintense in T2WI/FLAIR. No significant post-contrast enhancement. Also, there is an expansion of the pons and medulla with diffuse high signal in T2WI/FLAIR extending into the bilateral brachium pontis. The corresponding lesion show low signal in T1WI without post-contrast enhancement. No blooming artifact on SWI.  No diffusion restriction.

Case Discussion

The above mention findings are consistent with focal areas of signal intensity (FASI), bilateral optic pathway glioma, and diffuse brain stem glioma. These are the most common central nervous system manifestations of Neurofibromatosis type 1

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