Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

J Pediatr Neurosci. 2015 Oct-Dec;10(4):359-61

Authors: Ramanathan S, Kumar D, Al Heidous M, Palaniappan Y

Abstract
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.

PMID: 26962343 [PubMed]

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