A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.

ABSTRACT:

Background

Noonan syndrome is an autosomal dominant, variably expressed multisystem disorder characterized by specific facial and cardiac defects, delayed growth, ectodermal abnormalities, and lymphatic dysplasias. Lymphedema and chylous pleural effusions are common in Noonan syndrome, but protein-losing enteropathy (PLE) has only rarely been described in the condition and little is known about its genetic associations.

Case presentation

We report the case of a 30-year-old Chinese woman who developed severe recurrent edema and hypoproteinemia. Gastroduodenoscopy showed a "snowflake" appearance of lymphangiectasia in the duodenum, and CT reconstruction of the small intestine showed segmental thickening of the intestinal wall with localized stenosis. Whole exome sequencing rev

SUBMITTER: Wang N 

PROVIDER: S-EPMC7017519 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature