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Protein‐losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation
Author(s) -
Yang Chen,
Dehner Louis P.
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37756
Subject(s) - protein losing enteropathy , enteropathy , lymphangiectasia , dysplasia , gastroenterology , medicine , pathology , lymphatic system , disease
Protein‐losing enteropathy is a primary or secondary manifestation of a group of conditions, and etiologies which are broadly divisible into those with mucosal injury on the basis of inflammatory and ulcerative conditions, mucosal injury without erosions or ulcerations, and lymphatic abnormalities. We describe the first case of protein‐losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene. She presented with protein‐losing enteropathy in her 6th month. Post‐mortem examination revealed lymphangiectasia in the small intestine. To our knowledge, this is the first report of intestinal lymphangiectasia as a complication of skeletal dysplasia resulting in severe protein‐losing enteropathy. © 2016 Wiley Periodicals, Inc.