ArticleJournal of human genetics2008
Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.Hormone research in paediatrics · 2026Article
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.Frontiers in endocrinology · 2022Review
- Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.Translational pediatrics · 2021Article
- Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Orphanet journal of rare diseases · 2020Review
- Congenital hyperinsulinism associated with Hirschsprung's disease-a report of an extremely rare case.Surgical case reports · 2020Article
- Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.Clinical endocrinology · 2018Article
- The genetics of congenital central hypoventilation syndrome: clinical implications.The application of clinical genetics · 2018Review
- Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a NovelJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2017Article
- Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Journal of inherited metabolic disease · 2017Review
- Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study.Frontiers in endocrinology · 2017Article
- Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure.Respiratory medicine case reports · 2017Article
- Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Journal of inherited metabolic disease · 2012Review
- Congenital central hypoventilation syndrome: four families.Sleep & breathing = Schlaf & Atmung · 2011Article
- Congenital hyperinsulinism: current trends in diagnosis and therapy.Orphanet journal of rare diseases · 2011Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.