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

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