Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
Clin Case Rep
; 8(6): 1010-1014, 2020 Jun.
Article
in En
| MEDLINE
| ID: mdl-32577254
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Clin Case Rep
Year:
2020
Document type:
Article