Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

被引：0
作者：
Ulrike Hennewig
Berit Hadzik
Markus Vogel
Thomas Meissner
Timm Goecke
Hartmut Peters
Georg Selzer
Ertan Mayatepek
Thomas Hoehn
机构：
[1] University Hospital Duesseldorf,Department of General Pediatrics
[2] University Hospital Duesseldorf,Department of Pediatric Oncology, Hematology and Clinical Immunology
[3] University Hospital Duesseldorf,Institute of Human Genetics and Anthropology
[4] Charité University Medicine,Institute of Medical Genetics
[5] Klinikum Bremen,Department of Pediatric Intensive Care Medicine
[6] Heinrich-Heine-University,Department of General Pediatrics
来源：
Journal of Human Genetics | 2008年 / 53卷
关键词：
Congenital central hypoventilation syndrome; Ondine’s curse; Hyperinsulinism; Preterm infant; PHOX2B gene;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：573 / 577
页数：4
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