Hypoventilation Syndromes of Infancy, Childhood, and Adulthood : Congenital Central Hypoventilation Syndrome (CCHS), Later-Onset CCHS, and Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation - 29/08/14

Doi : 10.1016/j.jsmc.2014.06.001

Rehan Saiyed, BS ^a, Casey M. Rand, BS ^a, Michael S. Carroll, PhD ^a,^b, Debra E. Weese-Mayer, MD ^a,^b,^⁎
^a Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611, USA
^b Northwestern University Feinberg School of Medicine, 303 E. Chicago Avenue, Chicago, IL 60611, USA

^∗Corresponding author. Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 East Chicago Avenue, Box 165, Chicago, IL 60611.

Résumé

Congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) share many of the same clinical features including alveolar hypoventilation, disordered respiratory control, autonomic nervous system dysregulation, tumors of neural crest origin, and risk for sudden death. The etiology of ROHHAD remains unknown, although it can be distinguished through the heralding sign of rapid-onset weight gain, typically manifesting between 3 and 7 years of age. Early intervention with rigorous surveillance of these disorders is essential to ensure that individuals with CCHS and ROHHAD maximize their neurocognitive potential and lead relatively normal lives.

Le texte complet de cet article est disponible en PDF.

Keywords : Autonomic dysregulation, Hypothalamic dysregulation, Hypoventilation, PHOX2B