Abstract
Analbuminemia 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.
Keywords
analbuminemia - albumin - rare disease - neonatal edema
