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

Abstract

Summary. 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. Pediatr Pulmonol. 2000; 29:62-68.

ROHHADNET Syndrome Presenting as Major Behavioral Changes in a 5-Year-Old Obese Girl

“…Patients often died of cardiorespiratory arrest; approximately half of the patients analyzed died of cardiorespiratory arrest. 3 Ize-Ludlow et al 4 first used the acronym, ROHHAD, evaluated 21 patients and found that all of the patients had rapid-onset obesity and alveolar hypoventilation. They found that more than half of the patients had gastrointestinal dysmotility and thermal dysregulation, similar to our patient.…”

Rapid onset obesity, hypoventilation, hypothalamic, autonomic and thermal dysregulation, and neural tumour (ROHHADNET) syndrome presenting with Cushing syndrome

“…In contrast to CCHS, children with ROHHADNET remain healthy in early childhood and do not possess the specific disease causing paired-like homeobox gene (PHOX2B).Rapid onset obesity is a constant denominator in all reported cases [1,2,5]. Embryological proximity of the neuro endocrine systems and the insensitivity of the respiratory centre to the accumulation of CO 2 are postulated in the pathogenesis but the exact mechanism is under investigation [3].…”

“…An internet search with key words hypoventilation, cushing syndrome, and ganglioneuroma helped in arriving at a diagnosis of Late Onset Central Hypoventilation Hypothalamic Dysfunction Syndrome (LO-CH/HD) later named as ROHHADNET [2,3].…”

Late onset congenital central hypoventilation syndrome after exposure to general anesthesia

“…6 A form of late onset central hypoventilation syndrome (LO-CHS) has been described in at least 11 cases in the literature. 7 Late onset central hypoventilation syndrome presents beyond the neonatal period and as late as during adulthood (three months to 55 yr). Respiratory infection, sedation, or anesthesia apparently triggers the need for permanent nocturnal ventilator support.…”