Choroid plexus papilloma and Pierpont syndrome

J Neurosurg Pediatr. 2013 Feb;11(2):115-8. doi: 10.3171/2012.10.PEDS12219. Epub 2012 Nov 23.

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.

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / complications*
  • Developmental Disabilities / complications*
  • Foot Deformities, Congenital / complications*
  • Hand Deformities, Congenital / complications*
  • Humans
  • Hydrocephalus / etiology
  • Infant
  • Male
  • Papilloma, Choroid Plexus / complications*
  • Papilloma, Choroid Plexus / diagnosis*
  • Papilloma, Choroid Plexus / pathology
  • Papilloma, Choroid Plexus / surgery
  • Tomography, X-Ray Computed
  • Ventriculoperitoneal Shunt