J Neurosurg: Pediatrics / Volume 11 / February 2013 J Neurosurg Pediatrics 11:115–118, 2013 115 ©AANS, 2013 I n 1998, Mary Ella Pierpont frst described 2 unrelated boys (9 and 2.5 years of age) with remarkably simi- lar facial dysmorphism, plantar fat pads on hands and feet, and global developmental delay. 5 The facial features were unique in that both patients displayed midface hypo- plasia, anteverted nostrils, a central palatal ridge, and an elevated forehead together with mild microcephaly. Plan- tar fat pads were described as deep grooves generating the appearance of “pillowing” pads between the grooves. Severe speech delay was demonstrated in both patients; the 9-year-old boy was unable to speak. 5 Since that time, only 1 other case has been reported in which an identical triad of peripheral characteristics occurred. The physical examination fndings were accompanied by fndings of MR spectroscopy of the brain in which the early clinical developmental delay was associated with an increased choline peak in the frontal white matter zones. 4 In both reports, no cytogenetic aberrations were detected in lym- phocytes or skin fbroblasts, and analyses ruled out chro- mosomal mosaicism and mucopolysaccharidoses. 4,5 It re- mains unclear whether the inheritance pattern resembles an autosomal dominant or x-linked recessive pattern. Here, we report the case of a 6-month-old boy di- agnosed with Pierpont syndrome; this is only the fourth patient described in the scientifc literature and the frst in whom tumor pathology was identifed in addition to Pierpont syndrome. The identifcation of atypical CPP in association with the triad of clinical features occurring in this syndrome suggests histological aberrancy in a diag- nosis without cytogenetic abnormalities recorded to date. Case Report History and Examination. This 6-month-old male infant presented with a history of progressively increas- ing head circumference, bilateral hearing defcit, and acute onset of sunsetting eyes. He had been eating and Choroid plexus papilloma and Pierpont syndrome Case report Sudhakar V adiVelu, d.O., 1 MOrriS edelMan, M.d., 2 SteVen J. Schneider, M.d., 1 and Mark a. Mittler, M.d. 1 1 Division of Pediatric Neurosurgery and 2 Department of Pathology, Cohen Children’s Medical Center and the Hofstra North Shore–LIJ School of Medicine, New Hyde Park, New York The authors describe the case of a child who presented with hydrocephalus and phenotypic features characteris- tic 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 fndings of Pierpont syndrome diagnosed in 3 boys. This is the fourth case reported to date and is the frst documented case of an oncological pro- cess—an intraventricular atypical choroid plexus papilloma tumor—found in association with Pierpont syndrome. Syndromes associated with choroid plexus papilloma are reviewed. (http://thejns.org/doi/abs/10.3171/2012.10.PEDS12219) key WOrdS • x-linked recessive inheritance • neuroendoscopy • autosomal dominant inheritance • intraventricular tumor • oncology • hydrocephalus • mental retardation • multiple congenital anomalies • plantar lipomatosis Abbreviations used in this paper: CPP = choroid plexus papillo- ma; MCA/MR = multiple congenital anomalies/mental retardation.