Choroid plexus papilloma and Pierpont syndrome

Abstract

The authors describe the case of a child who presented with hydrocephalus and phenotypic features characteristic of a multiple congenital anomalies/mental retardation syndrome. Dysmorphic facies, medial plantar lipomatosis, and developmental delay were observed in this case and are identical to documented findings of Pierpont syndrome diagnosed in 3 boys. This is the fourth case reported to date and is the first documented case of an oncological process— an intraventricular atypical choroid plexus papilloma tumor—found in association with Pierpont syndrome. Syndromes associated with choroid plexus papilloma are reviewed.