Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
(2020) Clinical Case Reports — Vol. 8, n° 6, p. 1010-1014 (2020)
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- Authors
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.
- Affiliations
Citations
Dimitriou, C., Saliba, S., Peyrassol, X., Ben Abbou, W., Nassogne, M.-C., Neugroschl, C., Wiame, E., De Leener, A., & Cassart, M. (2020). Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance. Clinical Case Reports, 8(6), 1010-1014. https://doi.org/10.1002/ccr3.2780 (Original work published 2020)