Significance of Planum Temporale and Planum Parietale Morphologic Features in Neurofibromatosis Type 1

Abstract

NEUROFIBROMATOSIS TYPE 1 (NF-1) is an autosomal dominant genetic disorder that affects approximately 1 in 4000 people.¹ It is associated with a mutation on chromosome 17 and has highly variable phenotypic expression. Children with NF-1 have a high incidence of central nervous system anomalies. Areas of abnormal signal intensity in the brain, typically visualized using T2-weighted or fluid attenuation inversion recovery magnetic resonance imaging (MRI) protocols, are observed in approximately 70% of children with NF-1. These hyperintensities are most frequently observed in the brainstem, cerebellum, basal ganglia, and thalamus.² Cognitive impairment is also frequently described, and whereas some studies have shown no relationship between the presence of hyperintensities and neuropsychological deficits,^3,4 others have demonstrated associations between the presence or absence,⁵ number,^6,7 or location⁸ of hyperintensities and cognitive impairment.