TY - JOUR
T1 - Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation
AU - Yang, Chen
AU - Dehner, Louis P.
PY - 2016/11/1
Y1 - 2016/11/1
N2 - 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.
AB - 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.
KW - Lys650Met
KW - intestinal lymphangiectasia
KW - protein-losing enteropathy
KW - pulmonary hypertension
KW - skeletal dysplasia
UR - http://www.scopus.com/inward/record.url?scp=84971280666&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37756
DO - 10.1002/ajmg.a.37756
M3 - Article
C2 - 27214123
AN - SCOPUS:84971280666
VL - 170
SP - 2993
EP - 2997
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 11
ER -