Late-onset central hypoventilation with hypothalamic dysfunction: A distinct clinical syndrome

Eliot S. Katz, Sharon McGrath, Carole L. Marcus

Research output: Contribution to journalArticlepeer-review

102 Scopus citations


Idiopathic central hypoventilation has occasionally been reported in previously well children after infancy. The relationship between this late- onset central hypoventilation syndrome (LO-CHS) and congenital central hypoventilation syndrome (CCHS) has not been established. Both CCHS and LO- CHS have been associated with neural crest tumors, such as ganglioneuroblastoma and ganglioneuroma, and they generally occur in the presence of a histologically normal central nervous system. At least 10 case reports of idiopathic LO-CHS featured evidence of hypothalamic dysfunction (HD), including hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies. We report on a case of LO-CHS/HD successfully treated by nasal intermittent positive pressure ventilation (NIPPV). Despite the commonalties with CCHS, we propose that LO-CHS/HD is a distinct clinical syndrome. In addition to the markedly different age at presentation, features of hypothalamic dysfunction are not seen in CCHS. Review of the literature was undertaken to further clarify the full spectrum of the disease.

Original languageEnglish (US)
Pages (from-to)62-68
Number of pages7
JournalPediatric pulmonology
Issue number1
StatePublished - Jan 2000


  • Central hypoventilation syndrome
  • Children
  • Ganglioneuroma
  • Hypothalamic dysfunction
  • Hypoventilation
  • Nasal intermittent positive pressure ventilation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine


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