메뉴 건너뛰기




Volumn , Issue , 2011, Pages

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): A case with additional features and review of the literature

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; ANTICONVULSIVE AGENT; CORTICOTROPIN; DESMOPRESSIN; FOLLITROPIN; LUTEINIZING HORMONE; NEUROTRANSMITTER; TESTOSTERONE; THYROXINE; UBIDECARENONE;

EID: 84995519007     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.02.2010.2706     Document Type: Article
Times cited : (37)

References (23)
  • 1
    • 0000839176 scopus 로고
    • Primary alveolar hypoventilation syndrome (Ondine's curse)
    • Fishman LS, Samson JH, Sperling DR. Primary alveolar hypoventilation syndrome (Ondine's curse). Am J Dis Child 1965;110:155-61.
    • (1965) Am J Dis Child , vol.110 , pp. 155-161
    • Fishman, L.S.1    Samson, J.H.2    Sperling, D.R.3
  • 2
    • 0014880659 scopus 로고
    • Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature
    • Mellins RB, Balfour HH Jr Turino GM, et al. Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature. Medicine (Baltimore) 1970;49:487-504.
    • (1970) Medicine (Baltimore) , vol.49 , pp. 487-504
    • Mellins, R.B.1    Balfour Jr., H.H.2    Turino, G.M.3
  • 3
    • 13844316846 scopus 로고    scopus 로고
    • The French Congenital Central Hypoventilation Syndrome Registry: General data, phenotype, and genotype
    • French CCHS Working Group
    • Trang H, Dehan M, Beaufils F, et al.; French CCHS Working Group. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest 2005;127:72-9.
    • (2005) Chest , vol.127 , pp. 72-79
    • Trang, H.1    Dehan, M.2    Beaufils, F.3
  • 5
    • 54049100301 scopus 로고    scopus 로고
    • PHOX2B mutations and ventilatory control
    • Gallego J, Dauger S. PHOX2B mutations and ventilatory control. Respir Physiol Neurobiol 2008;164:49-54.
    • (2008) Respir Physiol Neurobiol , vol.164 , pp. 49-54
    • Gallego, J.1    Dauger, S.2
  • 6
    • 57449115132 scopus 로고    scopus 로고
    • Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene
    • Repetto GM, Corrales RJ, Abara SG, et al. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr 2009;98:192-5.
    • (2009) Acta Paediatr , vol.98 , pp. 192-195
    • Repetto, G.M.1    Corrales, R.J.2    Abara, S.G.3
  • 7
    • 34447118767 scopus 로고    scopus 로고
    • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood
    • Ize-Ludlow D, Gray JA, Sperling MA, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics 2007;120:e179-188.
    • (2007) Pediatrics , vol.120
    • Ize-Ludlow, D.1    Gray, J.A.2    Sperling, M.A.3
  • 8
    • 57849103487 scopus 로고    scopus 로고
    • Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome
    • De Pontual L, Trochet D, Caillat-Zucman S, et al. Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res 2008;64:689-94.
    • (2008) Pediatr Res , vol.64 , pp. 689-694
    • De Pontual, L.1    Trochet, D.2    Caillat-Zucman, S.3
  • 9
    • 53749102961 scopus 로고    scopus 로고
    • Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood
    • Bougnères P, Pantalone L, Linglart A, et al. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood. J Clin Endocrinol Metab 2008;93:3971-80.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 3971-3980
    • Bougnères, P.1    Pantalone, L.2    Linglart, A.3
  • 10
    • 0030917842 scopus 로고    scopus 로고
    • Idiopathic hypothalamic dysfunction: A paraneoplastic syndrome?
    • Nunn K, Ouvrier R, Sprague T, et al. Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome? J Child Neurol 1997;12:276-81.
    • (1997) J Child Neurol , vol.12 , pp. 276-281
    • Nunn, K.1    Ouvrier, R.2    Sprague, T.3
  • 11
    • 0021799813 scopus 로고
    • Idiopathic hypothalamic dysfunction and impaired control of breathing
    • duRivage SK, Winter RJ, Brouillette RT, et al. Idiopathic hypothalamic dysfunction and impaired control of breathing. Pediatrics 1985;75:896-8.
    • (1985) Pediatrics , vol.75 , pp. 896-898
    • DuRivage, S.K.1    Winter, R.J.2    Brouillette, R.T.3
  • 12
    • 0022498925 scopus 로고
    • Recurrent hypothermia, hypersomnolence, central sleep apnea, hypodipsia, hypernatremia, hypothyroidism, hyperprolactinemia and growth hormone deficiency in a boy - Treatment with clomopramime
    • Gurewitz R, Blum I, Lavie P, et al. Recurrent hypothermia, hypersomnolence, central sleep apnea, hypodipsia, hypernatremia, hypothyroidism, hyperprolactinemia and growth hormone deficiency in a boy-treatment with clomipramine. Acta Endocrinol Suppl (Copenh) 1986;279:468-72. (Pubitemid 17170038)
    • (1986) Acta Endocrinologica, Supplement , vol.113 , Issue.279 , pp. 468-472
    • Gurewitz, R.1    Blum, I.2    Lavie, P.3
  • 13
    • 0028040556 scopus 로고
    • Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: Report of two cases
    • North KN, Ouvrier RA, McLean CA, et al. Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases. J Child Neurol 1994;9:320-5. (Pubitemid 24255254)
    • (1994) Journal of Child Neurology , vol.9 , Issue.3 , pp. 320-325
    • North, K.N.1    Ouvrier, R.A.2    McLean, C.A.3    Hopkins, I.J.4
  • 14
    • 0033987475 scopus 로고    scopus 로고
    • Late-onset central hypoventilation with hypothalamic dysfunction: A distinct clinical syndrome
    • DOI 10.1002/(SICI)1099-0496(200001)29:1<62::AID-PPUL10>3.0.CO;2-M
    • Katz ES, McGrath S, Marcus CL. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol 2000;29:62-8. (Pubitemid 30036678)
    • (2000) Pediatric Pulmonology , vol.29 , Issue.1 , pp. 62-68
    • Katz, E.S.1    McGrath, S.2    Marcus, C.L.3
  • 15
    • 0037403021 scopus 로고    scopus 로고
    • Hypothalamic dysfunction associated with neuroblastoma: Evidence for a new Paraneoplastic syndrome?
    • Sirvent N, Bérard E, Chastagner P, et al. Hypothalamic dysfunction associated with neuroblastoma: evidence for a new Paraneoplastic syndrome? Med Pediatr Oncol 2003;40:326-8.
    • (2003) Med Pediatr Oncol , vol.40 , pp. 326-328
    • Sirvent, N.1    Bérard, E.2    Chastagner, P.3
  • 16
    • 69749084241 scopus 로고    scopus 로고
    • Late onset central hypoventilation syndrome with hypothalamic dysfunction in a Kuwaiti girl
    • Aboushanab OA, Alotaibi SA, Shaalan YA. Late-onset central hypoventilation syndrome with hypothalamic dysfunction in a Kuwaiti girl. Kuwait Medical J 2007;39:376-8. (Pubitemid 351662785)
    • (2007) Kuwait Medical Journal , vol.39 , Issue.4 , pp. 376-378
    • Aboushanab, O.A.1    Alotaibi, S.A.2    Shaalan, Y.A.3
  • 17
    • 32944476831 scopus 로고    scopus 로고
    • Late onset hypoventilation syndrome: Is there a spectrum of idiopathic hypoventilation syndromes?
    • Gothi D, Joshi JM. Late onset hypoventilation syndrome: is there a spectrum of idiopathic hypoventilation syndromes? Indian J Chest Dis Allied Sci 2005;47:293-7.
    • (2005) Indian J Chest Dis Allied Sci , vol.47 , pp. 293-297
    • Gothi, D.1    Joshi, J.M.2
  • 18
    • 22744440504 scopus 로고    scopus 로고
    • A sudden death due to central hypoventilation in a 3-year-old boy with idiopathic hypothalamic dysfunction
    • Kobayashi K, Miyamoto J, Hasegawa Y. A sudden death due to central hypoventilation in a 3 year old boy with idiopathic hypothalamic dysfunction. Clin Pediatr Endocrinol 2003;12:7-11. (Pubitemid 41032117)
    • (2003) Clinical Pediatric Endocrinology , vol.12 , Issue.1 , pp. 7-11
    • Kobayashi, H.1    Miyamoto, J.2    Hasegawa, Y.3
  • 21
    • 0019432888 scopus 로고
    • Sleep apnea and hypoventilation syndrome associated with acquired nonprogressive dysautonomia: Clinical and pathological studies in a child
    • DOI 10.1002/ana.410100104
    • Frank Y, Kravath RE, Inoue K, et al. Sleep apnea and hypoventilation syndrome associated with acquired nonprogressive dysautonomia: clinical and pathological studies in a child. Ann Neurol 1981;10:18-27. (Pubitemid 11093254)
    • (1981) Annals of Neurology , vol.10 , Issue.1 , pp. 18-27
    • Frank, Y.1    Kravath, R.E.2    Inoue, K.3
  • 22
    • 0019324215 scopus 로고
    • Effect of naloxone in a previously undescribed hypothalamic syndrome. A disorder of the endogenous opioid peptide system?
    • Dunger DB, Leonard JV, Wolff OH, et al. Effect of naloxone in a previously undescribed hypothalamic syndrome. A disorder of the endogenous opioid peptide system? Lancet 1980;1:1277-81.
    • (1980) Lancet , vol.1 , pp. 1277-1281
    • Dunger, D.B.1    Leonard, J.V.2    Wolff, O.H.3
  • 23
    • 0016763546 scopus 로고
    • Central alveolar hypoventilation in a child: An evaluation using a whole body plethysmograph
    • Nattie EE, Bartlett D, Rozycki AA. Central alveolar hypoventilation in a child: an evaluation using a whole body plethysmograph. Am Rev Respir Dis 1975;112:259-66.
    • (1975) Am Rev Respir Dis , vol.112 , pp. 259-266
    • Nattie, E.E.1    Bartlett, D.2    Rozycki, A.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.