Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
oleh: Christos Dimitriou, Souha Saliba, Xavier Peyrassol, Wafa Ben Abbou, Marie Cécile Nassogne, Carine Neugroschl, Elsa Wiame, Anne De Leener, Marie Cassart
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2020-06-01 |
Deskripsi
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.