A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

Abstract

Neurocutaneous syndromes like neurofibromatosis type 1 (NF-1) and Sturge-Weber syndrome are seen in children with variable frequency. It is uncommon to have two such syndromes in an individual. We report a 9-year-old boy who presented with left focal seizures and left hemi-paresis. He had 19 café-au-lait spots along with a port-wine stain in right upper and mid part of his face. His magnetic resonance imaging of brain revealed hamartomatous foci in bilateral globi pallidi, right parietal pial angiomatosis with ipsilateral choroid plexus enhancement. His mother was diagnosed with NF-1. On the basis of these clinico-radiological criteria, he was diagnosed as NF-1 with Sturge-Weber syndrome which is a rare combination. Such associations can stimulate further research regarding the pathogenesis of neurocutaneous syndromes.

Keywords

Neurofibromatosis type 1 - Sturge-Weber syndrome - association