Affiliations: Department of Pediatrics, Bharati Vidyapeeth Deemed
University Medical College, Pune, India
Note: [] Correspondence: Dr. Kavita Srivastava, Department of Pediatrics,
Fellowship in Pediatric Epilepsy, C-17, Aditya Chintamani Residency, Near Lake
Town, Bibvewadi, Pune, 411037, India. Tel.: +91 9850825791; Fax: +91 20
24375541; E-mail: kavitasrivastava@ yahoo.com
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
