Congenital Analbuminemia Associated with Hypothyroidism in a Preterm Neonate: The First Case from a Highly Consanguineous Community

Abstract

AbstractAnalbuminemia is a rare autosomal recessive disease characterized by extremely low or zero levels of circulating serum albumin. The diagnosis is made by ruling out other causes of hypoalbuminemia and should be confirmed by gene mutation analysis. In this article, we describe the clinical findings of a preterm neonate born to a consanguineous family who presented with progressive lower limb edema at the age of 7 days and who was confirmed as having congenital analbuminemia by genetic testing (homozygous mutation ALB NP_000468.1: p. Val78CysfsTer2) and hypothyroidism. This is the first case of congenital analbuminemia to be reported from Jordan.