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

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.

Keywords: enterolithiasis; metabolic disease; prenatal diagnosis.