Identification of EPCAM mutation: clinical use of microarray

Queenie K-G Tan; Diana M Cardona; Catherine W Rehder; Marie T McDonald

doi:10.1002/ccr3.914

Identification of EPCAM mutation: clinical use of microarray

Clin Case Rep. 2017 May 10;5(6):980-985. doi: 10.1002/ccr3.914. eCollection 2017 Jun.

Authors

Queenie K-G Tan¹, Diana M Cardona², Catherine W Rehder², Marie T McDonald¹

Affiliations

¹ Division of Medical Genetics Department of Pediatrics Duke University Health System Durham North Carolina.
² Department of Pathology Duke University Health System Durham North Carolina.

Abstract

We report a case of an infant with congenital tufting enteropathy (CTE) who presented with severe failure to thrive despite multiple interventions. This study illustrates that CTE may be missed by endoscopy, and the use of chromosomal microarray and immunohistological analysis may be integral to diagnosis.

Keywords: Congenital tufting enteropathy; EPCAM mutations; consanguinity; failure to thrive.

Publication types

Case Reports