Patient with multiple cutaneous lesions on MRI brain shows evidence of thickened and moderately T2 hyperintense optic chiasma with moderate post gadolinium enhancement anteriorly extending till the orbital apex. This may indicate optic glioma. There are areas of T2/FLAIR hyperintensity in the bilateral mesial temporal regions, right globus pallidus region and right pontomesencephalic region, with no significant enhancement, Possible hamartomas. These findings along with cutaneous findings described could indicate diagnosis of Neurofibromatosis I. Advised clinical correlation.
The criteria for the diagnosis of NF1 are met in an individual if 2 or more of the following signs are found:
- Six or more café au lait macules larger than 5 mm in the greatest diameter in prepubertal children and larger than 1.5 cm in postpubertal individuals
- Two or more neurofibromas of any type or 1 plexiform neurofibroma
- Multiple freckles (Crowe sign) in the axillary or inguinal region
- A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis
- Optic glioma
- Two or more iris hamartomas (Lisch nodules) seen on slitlamp or biomicroscopy examination
- A first-degree relative (parent, sibling, offspring) with NF1, as diagnosed by using the above criteria.
Neurofibromatosis-I Reviewed by Sumer Sethi on Tuesday, July 01, 2014 Rating: