Document Detail


A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype.
MedLine Citation:
PMID:  20560260     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital central hypoventilation syndrome (CCHS) is a rare disorder with uncertain nosology that usually presents early in life. The syndrome is characterized by ventilatory response impairment to carbon dioxide and may result in respiratory failure at birth. Recent reports have identified a similar clinical presentation beyond infancy called late-onset central hypoventilation syndrome (LO-CHS) as a disease continuum of CCHS with similar and overlapping pathophysiology. However, some have proposed that the syndrome accompanied by hypothalamic dysfunction (HD) be classified as a distinct clinical entity, LO-CHS/HD. To the best of our knowledge, the case reported herein is the oldest case of LO-CHS/HD in childhood, at 13 years old. He suffered from recurrent pulmonary edema, acute convulsive seizures, hypersomnia, hyperphagia, obesity, impaired glucose tolerance test, and hypercapnia, diagnosed as LO-CHS/HD, and was successfully treated with nasal bi-level positive airway pressure.
Authors:
Hasan Onal; Atilla Ersen
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  52     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2010 Mar-Apr
Date Detail:
Created Date:  2010-06-21     Completed Date:  2010-08-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  198-202     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Ministry of Health Bakirköy Research and Training Hospital, Istanbul, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Diagnosis, Differential
Humans
Hypothalamic Diseases / congenital*,  diagnosis,  physiopathology,  therapy
Hypoventilation / congenital*,  diagnosis,  physiopathology,  therapy
Male
Phenotype
Positive-Pressure Respiration
Syndrome

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