Case Report: Considerations of nocturnal ventilator support in ROHHAD syndrome in chronic care of childhood central hypoventilation with hypothalamus dysfunction.

ABSTRACT: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare life-threatening disorder that can occur during childhood. All children with ROHHAD develop alveolar hypoventilation during wakefulness and sleep. The key treatment for these patients is the optimization of oxygenation and ventilation. Here, we report the case of a 5-year-old girl with suspected ROHHAD, with rapid weight gain, breathing cessation, decreased height, hypoventilation, central hypothyroidism, hyperprolactinemia, and absolute deficiency of growth hormone, and negative PHOX2B sequencing results. The presentation met the diagnostic criteria for ROHHAD syndrome. During the 5-year follow-up, she presented with progressive deterioration of the function of the hypothalam

SUBMITTER: Zhao R 

PROVIDER: S-EPMC9470944 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature