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

Idiopathic central hypoventilation has occasionally been reported in previo usly well children after infancy. The relationship between this late-onset central hypoventilation syndrome (LO-CHS) and congenital central hypoventil ation syndrome (CCHS) has not been established. Both CCHS and LO-CHS have b een associated with neural crest tumors, such as ganglioneuroblastoma and g anglioneuroma, and they generally occur in the presence of a histologically normal central nervous system. At least 10 case reports of idiopathic LO-C HS featured evidence of hypothalamic dysfunction (HD), including hyperphagi a, hypersomnolence, thermal dysregulation, emotional lability, and endocrin opathies. 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 dysfun ction are not seen in CCHS. Review of the literature was undertaken to furt her clarify the full spectrum of the disease. (C) 2000 Wiley-Liss, Inc.