Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report.

ABSTRACT:

Background

Severe protein C deficiency is a rare and inherited cause of thrombophilia in neonates. Protein C acts as an anticoagulant, and its deficiency results in vascular thrombosis. Herein, we report a case of protein C deficiency with a homozygous pathogenic variant in a term neonate, with good outcomes after proper treatment.

Case presentation

A four-day-old male newborn was transferred to the Seoul National University Hospital on account of dark red to black skin lesions. He was born full-term with an average birth weight without perinatal problems. There were no abnormal findings in the prenatal tests, including intrauterine sonography. The first skin lesion was observed on his right toes and rapidly progressed to proximal areas, such as the lower legs, left arm, and

SUBMITTER: Song U 

PROVIDER: S-EPMC8520241 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature