1. Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
- Author
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UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de neurologie pédiatrique, Dimitriou, Christos, Saliba, Souha, Peyrassol, Xavier, Ben Abbou, Wafa, Nassogne, Marie-Cécile, Neugroschl, Carine, Wiame, Elsa, De Leener, Anne, Cassart, Marie, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de neurologie pédiatrique, Dimitriou, Christos, Saliba, Souha, Peyrassol, Xavier, Ben Abbou, Wafa, Nassogne, Marie-Cécile, Neugroschl, Carine, Wiame, Elsa, De Leener, Anne, and Cassart, Marie
- 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.
- Published
- 2020