Open AccessDelayed diagnosis of Gorlin syndrome: Learning from mistakes!
Author(s) -
Subramaniyan Ramanathan,
Devendra Kumar,
Mahmoud Al Heidous,
Yegu Palaniappan
Publication year - 2015
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.174437
Subject(s) - medicine , basal cell nevus syndrome , medulloblastoma , nevoid basal cell carcinoma syndrome , craniofacial , magnetic resonance imaging , falx cerebri , calcification , pathology , radiology , basal cell , basal cell carcinoma , psychiatry
Gorlin syndrome (GS) is a rare inherited multisystem disorder with predisposition to basal cell carcinomas and various other neoplasms. Characteristic features include falx calcification, multiple odontogenic keratocysts (OKCs), early onset medulloblastoma, craniofacial and skeletal malformations, cardiac and ovarian fibroma. We present a case of GS in a 9-year-old girl with recurrent dental infections which was overlooked for 8 years. Diagnosis was finally suggested by the incidental detection of multiple OKCs and ovarian fibromas on follow-up magnetic resonance imaging performed for surveillance of previous operated brain tumor.