Rare Genetic disorder presenting as Late onset Vitamin K Deficiency Bleeding in an Infant

Abstract

Vitamin K deficiency bleeding is a widespread concern affecting newborns globally. Family hypercholanemia is a rare cause of fat-soluble vitamin deficiency. We report an infant who reported multiple episodes of intracranial and gastrointestinal bleeding from the fourth month of life, which was later confirmed to have a bile acid coenzyme A: amino acid N-acyltransferase gene mutation by clinical exome sequence genetic study. Though this baby had subtle signs of itching, the possibility of liver disease was not considered initially, as liver function tests and ultrasound of the abdomen were normal. This case report stresses the importance of evaluating the cause of secondary vitamin K deficiency in all infants with bleeding manifestations despite receiving vitamin K universal prophylaxis at birth.

Keywords: Vitamin K deficiency bleed, Familial hypercholanemia, Liver disease, Hemorrhagic disease of newborn, Bile acids