Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

• Published in: Journal of human genetics Vol. 53; no. 6; pp. 573 - 577
• Main Authors: Hennewig, Ulrike, Hadzik, Berit, Vogel, Markus, Meissner, Thomas, Goecke, Timm, Peters, Hartmut, Selzer, Georg, Mayatepek, Ertan, Hoehn, Thomas
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.06.2008
• Subjects: Alveoli; Amino Acid Sequence; Autonomic nervous system; Baby foods; Base Sequence; Congenital Hyperinsulinism - complications; Congenital Hyperinsulinism - genetics; DNA, Complementary - genetics; Female; Homeodomain Proteins - genetics; Humans; Hypoventilation; Infant, Newborn; Infant, Premature; Molecular Sequence Data; Mutation; Mutation, Missense; Neonates; Neural crest; Phenotypes; Phox2b protein; Polyalanine; Premature babies; Sequence Homology, Amino Acid; Sleep Apnea, Central - complications; Sleep Apnea, Central - genetics; Syndrome; Transcription Factors - genetics; Tumors
• ISSN: 1434-5161; 1435-232X
• DOI: 10.1007/s10038-008-0275-1

Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung's disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS.