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

Dimitriou Christos | Zendy; Saliba Souha | Zendy; Peyrassol Xavier | Zendy; Ben Abbou Wafa | Zendy; Nassogne Marie Cécile | Zendy; Neugroschl Carine | Zendy; Wiame Elsa | Zendy; De Leener Anne | Zendy; Cassart Marie | Zendy

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Heterogeneous 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.

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