Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation

Chen Yang, Louis P. Dehner

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish
Pages (from-to)2993-2997
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number11
DOIs
StatePublished - Nov 1 2016

Keywords

  • Lys650Met
  • intestinal lymphangiectasia
  • protein-losing enteropathy
  • pulmonary hypertension
  • skeletal dysplasia

Fingerprint

Dive into the research topics of 'Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation'. Together they form a unique fingerprint.

Cite this