Congenital central hypoventilation syndrome: Diagnosis, management, and long-term outcome in thirty-two children

Debra E. Weese-Mayer*, Jean M. Silvestri, Lisa J. Menzies, Anna S. Morrow-Kenny, Carl E. Hunt, Susan A. Hauptman

*Corresponding author for this work

Research output: Contribution to journalArticle

157 Scopus citations

Abstract

The diagnosis, management, and long-term outcome of 32 patients with congenital central hypoventilation syndrome are summarized. Sleep hypoventilation was severe in all cases, resulting in an alveolar carbon dioxide pressure (mean±SEM) of 62±2.5 mm Hg and a hemoglobin saturation of 65%±3.3% without ventilatory or arousal response. Awake hypoventilation on initial assessment was present in 12 of the 32 patients, resulting in an alveolar carbon dioxide pressure of 58±2.2 mm Hg and a hemoglobin saturation of 59%±7%. Associated conditions included pulmonary hypertension or cor pulmonale or both (78%) heart block and sick sinus syndrome requiring a cardiac pacemaker (two patients), mild atrophy by cranial imaging evidence (40%), seizures (72%), normal brain-stem auditory evoked responses in all but one patient tested, ganglioneuroblastomas (one patient), Hirschsprung disease (16%), and ophthalmologic abnormalities (60%). Growth was deficient in 44% of patients; hypotonia or major motor delay or both were apparent in all. Twenty-two patients are living; 12 of them require continuous ventilatory support and 10 breathe spontaneously while awake and require ventilatory support while asleep. Ten patients have died. Autopsy performed in six cases indicated diffuse central nervous system astrocytosis, gliosis, and atrophy but no primary brain-stem abnormality. Although these data support a diffuse central nervous system process, the specific cause and the mode of inheritance remain unclear. With early diagnosis and careful ventilatory management, the sequelae of hypoxia and morbidity should be minimized and long-term outcome improved.

Original languageEnglish (US)
Pages (from-to)381-387
Number of pages7
JournalThe Journal of pediatrics
Volume120
Issue number3
DOIs
StatePublished - Jan 1 1992

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Congenital central hypoventilation syndrome: Diagnosis, management, and long-term outcome in thirty-two children'. Together they form a unique fingerprint.

  • Cite this