Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. Issue 8 (13th January 2014)

• Record Type: Journal Article
• Authors: El‐Sheikh, Ayman A.; Hashem, Hasan; Holman, Carol; Vyas, Yatin M.
• Is Part Of: Pediatric blood & cancer. Volume 61:Issue 8(2014:Aug.)
• Page Start: 1460
• Page End: 1462
• Publication Date: 2014-01-13
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24945
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="pbc24945-sec-0001" sec-type="section"> <p>Congenital dyserythropoietic anemia (CDA) type‐1 is a rare genetic disorder of ineffective erythropoiesis, which manifests in macrocytic anemia. We report a CDA1 patient who as a newborn presented with macrocytic anemia and persistent pulmonary hypertension of the newborn (PPHN) requiring mechanical ventilation. Post‐infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. Patient is a compound heterozygote for a known maternal‐derived missense‐mutation (c.1796A &gt; G/p.Asn589Ser) and a novel paternal‐derived deletion‐mutation (c.1104_1106del/Phe365del) in <italic>CDAN1</italic>. This report highlights the importance of recognizing PPHN as a presenting symptom of CDA1 and expands the repertoire of the accompanying mutations and axial skeletal malformations. Pediatr Blood Cancer 2014; 61:1460–1462. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>