Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
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.
Hennewig
Ulrike
U
Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.|Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital Duesseldorf, Duesseldorf, Germany.
Hadzik
Berit
B
Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
Vogel
Markus
M
Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
Meissner
Thomas
T
Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
Goecke
Timm
T
Institute of Human Genetics and Anthropology, University Hospital Duesseldorf, Duesseldorf, Germany.
Peters
Hartmut
H
Institute of Medical Genetics, Charité University Medicine, Berlin, Germany.
Selzer
Georg
G
Department of Pediatric Intensive Care Medicine, Klinikum Bremen, Bremen, Germany.
Mayatepek
Ertan
E
Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
Hoehn
Thomas
T
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.
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
D018076:DNA, Complementary; D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors