| 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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Congenital nasolacrimal duct mucocele--a case report.
Next Document: Unusual sign of meningitis: acute globe vesicalis.