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CASE REPORT
Year : 2015  |  Volume : 4  |  Issue : 4  |  Page : 281-284

Pierson syndrome: Acase report with a neonatal cardiac association based on a novel mutation in the LAMB2 gene


1 Department of Neonatology, Women's Hospital, Hamad Medical Corporation; Department of Pediatrics, Weill Cornell Medical College, Doha, Qatar
2 Department of Genetics, Hamad Medical Corporation, Doha, Qatar
3 Department of Pediatrics Cardiology, Hamad Medical Corporation, Doha, Qatar
4 Department of Pediatrics, Weill Cornell Medical College; Department of Opthalmology, Hamad Medical Corporation, Doha, Qatar
5 Department of Genetics, Institute for Rare Diseases, Centogene AG, Schillingallee Rostock, Rostock, Germany
6 Department of Genetics, Institute for Rare Diseases, Centogene AG, Schillingallee Rostock; Department of Neurogenetics, Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany
7 Department of Pediatric Nephrology, Hamad Medical Corporation, Doha, Qatar
8 Department of Neonatology, Women's Hospital, Hamad Medical Corporation, Doha, Qatar

Correspondence Address:
Hussain Parappil
Specialist in Neonatology, Hamad Medical Corporation, Women's Hospital, Doha
Qatar
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.165699

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Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don't respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). Mutations in the genes NPHS1, NPHS2, and WT1 are known to account for the majority of CNS cases, whereas a definitive diagnosis of Pierson syndrome can be established by the detection of a causative mutation in both copies of a patient's LAMB2 gene (encoding laminin β2). CNS can manifest in utero (ultrasound may reveal hyperechogenic kidneys and oligohydramnios), or during the first 3 months of life. Pierson syndrome is an autosomal recessive disorder comprised of CNS and distinct ocular abnormalities. The prognosis of this extremely rare disorder is very poor, with the most babies developing end-stage renal disease. Those who do survive tend to show the neurodevelopmental delay and visual loss. We report a case of neonatal Pierson syndrome in conjunction with complex cyanotic cardiac disease in which a novel homozygous mutation in the LAMB2 gene was detected. The clinical association of Pierson syndrome with heart manifestation is a novel finding, reported here for the 1st time.


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