Affiliations: Department of Pediatrics, Tripler Army Medical Center,
Honolulu, HI, USA | Kapiolani Medical Specialists, Department of
Pediatrics, John A Burns School of Medicine, Honolulu, HI, USA | Department of Pediatrics, Division of Neonatology,
John A Burns School of Medicine, Honolulu, HI, USA | Institute of Human Genetics, University Hospital
Erlangen, University of Erlangen, Nuremberg, Germany
Note: [] Corresponding author: Taylor Sawyer DO, Department of
Pediatrics, MCHK-PE, 1 Jarrett White Road, Tripler Army Medical Center,
Honolulu, HI 96859-5000, USA. Tel.: +1 808 551 9074; Fax: +1 808 433 6046;
E-mail: [email protected]
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.
