title: Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
abstract: 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.
authors.affiliation: Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.|Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital Duesseldorf, Duesseldorf, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Hennewig
authors.affiliation: Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
authors.forename: Berit
authors.initials: B
authors.lastname: Hadzik
authors.affiliation: Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Vogel
authors.affiliation: Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Meissner
authors.affiliation: Institute of Human Genetics and Anthropology, University Hospital Duesseldorf, Duesseldorf, Germany.
authors.forename: Timm
authors.initials: T
authors.lastname: Goecke
authors.affiliation: Institute of Medical Genetics, Charité University Medicine, Berlin, Germany.
authors.forename: Hartmut
authors.initials: H
authors.lastname: Peters
authors.affiliation: Department of Pediatric Intensive Care Medicine, Klinikum Bremen, Bremen, Germany.
authors.forename: Georg
authors.initials: G
authors.lastname: Selzer
authors.affiliation: Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.affiliation: Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany. thomas.hoehn@uni-duesseldorf.de.|Department of General Pediatrics, Heinrich-Heine-University, Moorenstr. 5, 40225, Duesseldorf, Germany. thomas.hoehn@uni-duesseldorf.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Hoehn
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D044903:Congenital Hyperinsulinism / Q000150:complications / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017386:Sequence Homology, Amino Acid; D020182:Sleep Apnea, Central / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors