Article
Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.
Medicine - 2 Jul 2020
Fattorusso Antonella, Pieri Elena Sofia, Dell'Isola Giovanni Battista, Prontera Paolo, Mencaroni Elisabetta, Stangoni Gabriela, Esposito Susanna
Abstract excerpt
RATIONAL: Intestinal lymphangiectasia (IL) is a rare disease characterized by dilatation and rupture of intestinal lymphatic channels leading to protein-losing enteropathy. IL is classified as primary and secondary types. PATIENT CONCERNS: A 3-month-old girl born at term from vaginal delivery with an APGAR score of 10/10 and birth weight of 4.310 g (>97° percentile) was admitted to our hospital because of...
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