TY - JOUR
T1 - Late-onset central hypoventilation with hypothalamic dysfunction
T2 - A distinct clinical syndrome
AU - Katz, Eliot S.
AU - McGrath, Sharon
AU - Marcus, Carole L.
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 2000/1
Y1 - 2000/1
N2 - 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.
AB - 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.
KW - Central hypoventilation syndrome
KW - Children
KW - Ganglioneuroma
KW - Hypothalamic dysfunction
KW - Hypoventilation
KW - Nasal intermittent positive pressure ventilation
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U2 - 10.1002/(SICI)1099-0496(200001)29:1<62::AID-PPUL10>3.0.CO;2-M
DO - 10.1002/(SICI)1099-0496(200001)29:1<62::AID-PPUL10>3.0.CO;2-M
M3 - Article
C2 - 10613788
AN - SCOPUS:0033987475
SN - 8755-6863
VL - 29
SP - 62
EP - 68
JO - Pediatric pulmonology
JF - Pediatric pulmonology
IS - 1
ER -