Open AccessHeterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
Author(s) -
Dimitriou Christos,
Saliba Souha,
Peyrassol Xavier,
Ben Abbou Wafa,
Nassogne Marie Cécile,
Neugroschl Carine,
Wiame Elsa,
De Leener Anne,
Cassart Marie
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2780
Subject(s) - medicine , prenatal diagnosis , heterozygote advantage , fetus , mutation , disease , genetic testing , genetic counseling , inherited disease , gastroenterology , gene , physiology , obstetrics , pathology , pregnancy , genetics , genotype , biology
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.