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2. Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

Author

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

3. Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance

Author

Dimitriou, Christos, Saliba, S., Peyrassol, Xavier, Ben Abbou, Wafa, Nassogne, Marie-Cécile, Neugroschl, Carine, Wiame, Elsa, De Leener, Anne, Cassart, Marie, Dimitriou, Christos, Saliba, S., 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., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2020

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