P Sarma1, P S Bindu, S Dwarakanath, S Somanna. 1. Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore, Karnataka, 560029, India.
Abstract
INTRODUCTION: Varadi-Papp syndrome (VPS) or oral-facial-digital syndrome type VI (OFDS-VI) is a rare autosomal recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. It can be associated with central nervous system tumors, which most commonly has been a hypothalamic hamartoma. CLINICAL CASE REPORT: The boy had unusual facial features, developmental delay, limb malformations, and other phenotypic anomalies suggestive of VPS. X-ray of the hand and feet showed right hand polydactyly. He also had a deep wider peduncular fossa, thickened superior cerebellar peduncle, and inferior vermian hypoplasia along with optochiasmatic tumor. The patient underwent a right pterional craniotomy and tumor decompression. Histopathology was suggestive of a pilocytic astrocytoma. CONCLUSION: This is the first case in available literature in which the OFDS-VI has been associated with an optochiasmatic pilocytic astrocytoma. We suggest an expansion of the disease spectrum of OFDS-VI to include the association of optochiasmatic pilocytic astrocytoma.
INTRODUCTION: Varadi-Papp syndrome (VPS) or oral-facial-digital syndrome type VI (OFDS-VI) is a rare autosomal recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. It can be associated with central nervous system tumors, which most commonly has been a hypothalamic hamartoma. CLINICAL CASE REPORT: The boy had unusual facial features, developmental delay, limb malformations, and other phenotypic anomalies suggestive of VPS. X-ray of the hand and feet showed right hand polydactyly. He also had a deep wider peduncular fossa, thickened superior cerebellar peduncle, and inferior vermian hypoplasia along with optochiasmatic tumor. The patient underwent a right pterional craniotomy and tumor decompression. Histopathology was suggestive of a pilocytic astrocytoma. CONCLUSION: This is the first case in available literature in which the OFDS-VI has been associated with an optochiasmatic pilocytic astrocytoma. We suggest an expansion of the disease spectrum of OFDS-VI to include the association of optochiasmatic pilocytic astrocytoma.
Authors: Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker Journal: Am J Hum Genet Date: 2005-02-28 Impact factor: 11.025
Authors: Enza Maria Valente; Clare V Logan; Soumaya Mougou-Zerelli; Jeong Ho Lee; Jennifer L Silhavy; Francesco Brancati; Miriam Iannicelli; Lorena Travaglini; Sveva Romani; Barbara Illi; Matthew Adams; Katarzyna Szymanska; Annalisa Mazzotta; Ji Eun Lee; Jerlyn C Tolentino; Dominika Swistun; Carmelo D Salpietro; Carmelo Fede; Stacey Gabriel; Carsten Russ; Kristian Cibulskis; Carrie Sougnez; Friedhelm Hildebrandt; Edgar A Otto; Susanne Held; Bill H Diplas; Erica E Davis; Mario Mikula; Charles M Strom; Bruria Ben-Zeev; Dorit Lev; Tally Lerman Sagie; Marina Michelson; Yuval Yaron; Amanda Krause; Eugen Boltshauser; Nadia Elkhartoufi; Joelle Roume; Stavit Shalev; Arnold Munnich; Sophie Saunier; Chris Inglehearn; Ali Saad; Adila Alkindy; Sophie Thomas; Michel Vekemans; Bruno Dallapiccola; Nicholas Katsanis; Colin A Johnson; Tania Attié-Bitach; Joseph G Gleeson Journal: Nat Genet Date: 2010-05-30 Impact factor: 38.330