Unique cardiovascular and central nervous system findings in an infant with Pierson (microcoria – congenital nephrosis) Syndrome

Abstract

Pierson syndrome (microcoria – congenital nephrosis) is a recently described autosomal recessive genetic disorder caused by mutations in the LAMB2 gene. A mutation of the LAMB2 gene is the fourth most common detectable genetic mutation in infants with congenital nephrotic syndrome. Pierson syndrome presents in the neonatal period with congenital nephrotic syndrome and ophthalmologic findings of bilateral microcoria (pinpoint, non reactive pupils). Here, we describe an infant diagnosed with Pierson syndrome which also had hypertrophic cardiomyopathy and diffuse cerebral infarctions. The cardiovascular and central nervous system pathology in this case may be a previously unreported component of Pierson syndrome.