Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance. Issue 6 (6th March 2020)

• Record Type: Journal Article
• Authors: Dimitriou, Christos; Saliba, Souha; Peyrassol, Xavier; Ben Abbou, Wafa; Nassogne, Marie Cécile; Neugroschl, Carine; Wiame, Elsa; De Leener, Anne; Cassart, Marie
• Is Part Of: Clinical case reports. Volume 8:Issue 6(2020)
• Page Start: 1010
• Page End: 1014
• Publication Date: 2020-03-06
• Subjects: enterolithiasis -- metabolic disease -- prenatal diagnosis; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2780
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications. Abstract : We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications.