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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Gurrieri F, Franco B, Toriello H, Neri G (2007) Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A 143A:3314–23
Váradi V, Szabó L, Papp Z (1980) Syndrome of polydactyly, cleft lip/palate or lingual lump and psychomotor retardation in endogamic gypsies. J Med Genet 17:119–22
Parisi MA, Doherty D, Chance PF, Glass IA (2007) Joubert syndrome (and related disorders). Eur J Hum Genet 15:511–21
Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH (1990) Oral-facial-digital syndrome type VI (V’aradi syndrome): further clinical delineation. Am J Med Genet 35:360–9
Mauceri L, Greco F, Baieli S, Sorge G (2000) Varadi-Papp syndrome: report of a case. Clin Dysmorphol 9:289–90
Hayes LL, Simoneaux SF, Palasis S, Niyazov DM (2008) Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type. Pediatr Radiol 38:994–8
Takanashi J, Tada H, Ozaki H, Barkovich AJ (2009) Malformations of cerebral cortical development in oral-facial-digital syndrome type VI. AJNR Am J Neuroradiol 30:e22–3
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF et al (2005) Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609–22
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F et al (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 42:619–25
Poretti A, Brehmer U, Scheer I, Bernet V, Boltshauser E (2008) Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. AJNR Am J Neuroradiol 29:1090–1
Varadi V, Papp Z (2005) 25 years’ history of Varadi-Papp syndrome (orofaciodigital syndrome VI). Orv Hetil 146:2017–22
Source of support
Nil.
Conflict of interest
None declared.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sarma, P., Bindu, P.S., Dwarakanath, S. et al. Association of oral–facial–digital syndrome type VI (Varadi–Papp syndrome) with optochiasmatic pilocytic astrocytoma. Childs Nerv Syst 31, 789–792 (2015). https://doi.org/10.1007/s00381-014-2545-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00381-014-2545-x