title: Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.
abstract: 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.
authors.affiliation: Division of Anatomic and Molecular Pathology, Department of Pathology and Immunology, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, Missouri.
authors.forename: Chen
authors.initials: C
authors.lastname: Yang
authors.affiliation: Division of Anatomic and Molecular Pathology, Department of Pathology and Immunology, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, Missouri. dehner@path.wustl.edu.
authors.forename: Louis P
authors.initials: LP
authors.lastname: Dehner
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D001344:Autopsy; D001921:Brain / Q000473:pathology; D003062:Codon; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000473:pathology; D008168:Lung / Q000473:pathology; D008201:Lymphangiectasis, Intestinal / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010641:Phenotype; D011504:Protein-Losing Enteropathies / Q000175:diagnosis* / Q000235:genetics*; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000172:deficiency* / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D003062:Codon; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: Lys650Met; intestinal lymphangiectasia; protein-losing enteropathy; pulmonary hypertension; skeletal dysplasia