We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.

We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vo...

A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disor...

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-CH...

Carroll MS, Patwari PP, Weese-Mayer DE. Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation. J Appl Physiol 108: 979–988, 2010. First published January 28, 2010; doi:10.1152/japplphysiol.00004.2010.— Respiratory and autonomic disorders of infancy, childhood, and adulthood are a group of disorders that have varying presentation, combined with a range of sever...

Breathing is maintained and controlled by a network of neurons in the brainstem that generate respiratory rhythm and provide regulatory input. Central chemoreception, the mechanism for CO(2) detection that provides an essential stimulatory input, is thought to involve neurons located near the medullary surface, whose nature is controversial. Good candidates are serotonergic medullary neurons an...

An 8 month old Caucasian girl, with congenital central alveolar hypoventilation syndrome (Ondine's Curse), was discharged with her home ventilation managed by her parents. Her subsequent neurophysical development assessed at 22 months of age was satisfactory.

Background: ROHHAD syndrome (rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation) is an extremely rare disease in children. This article describes the clinical features, laboratory findings, imaging results, and treatment of a case of ROHHAD syndrome with ganglioneuroma. Case Report: An 8-year-old girl in Covid-19 pandemic was admitted to our emergency d...