title: 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.
authors.affiliation: Division of Pediatric Neurosurgery, Cohen Children’s Medical Center and the Hofstra North Shore–LIJ School of Medicine, New Hyde Park, New York 11030, USA. sxvadive@texaschildrens.org
authors.forename: Sudhakar
authors.initials: S
authors.lastname: Vadivelu
authors.forename: Morris
authors.initials: M
authors.lastname: Edelman
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Schneider
authors.forename: Mark A
authors.initials: MA
authors.lastname: Mittler
mesh_terms: D019465:Craniofacial Abnormalities / Q000150:complications*; D002658:Developmental Disabilities / Q000150:complications*; D005532:Foot Deformities, Congenital / Q000150:complications*; D006228:Hand Deformities, Congenital / Q000150:complications*; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D007223:Infant; D008297:Male; D020288:Papilloma, Choroid Plexus / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D014057:Tomography, X-Ray Computed; D017287:Ventriculoperitoneal Shunt