Síndrome de hipoventilação central congênita associada à doença de Hirschsprung: relato de caso e revisão de literatura

Mellins, 1970, Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature, Medicine (Baltimore)., 49, 487, 10.1097/00005792-197011000-00003 Guyenet, 2010, Central respiratory chemoreception, J Comp Neurol., 518, 883, 10.1002/cne.22435 Weese-Mayer, 2009, Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine, Pediatr Pulmonol., 44, 521, 10.1002/ppul.21045 Weese-Mayer, 2013, Édition française de la Déclaration officielle de politique clinique de l’American Thoracic Society (ATS) sur le syndrome d’hypoventilation alvéolaire centrale congénitale: bases génétiques, diagnostic et prise en charge, Rev Mal Respir., 30, 706, 10.1016/j.rmr.2013.03.007 1999, Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society, Am J Respir Crit Care Med., 160, 368, 10.1164/ajrccm.160.1.16010 Huang, 2008, Effect of sleep stage on breathing in children with central hypoventilation, J Appl Physiol (1985), 105, 44, 10.1152/japplphysiol.01269.2007 Assencio-Ferreira, 2009, Era uma vez Ondina...relato de caso, Disturb Comum., 121, 385 Haddad, 1978, Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate, Medicine (Baltimore)., 57, 517, 10.1097/00005792-197811000-00003 Vanderlaan, 2004, Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome, Pediatr Pulmonol., 37, 217, 10.1002/ppul.10438 Trang, 2005, The French congenital central hypoventilation syndrome registry: general data, phenotype, and genotype, Chest., 127, 72, 10.1378/chest.127.1.72 Loghmanee, 2009, Paired‐like homeo‐box gene 2b (PHOX2B) and congenital central hypoventilation syndrome (CCHS): genotype/phenotype correlation in cohort of 347 cases, Am J Respir Crit Care Med., 179, A6341 Trochet, 2005, PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome, Am J Hum Genet., 76, 421, 10.1086/428366 Weese-Mayer, 1992, Congenital central hypoventilation syndrome: diagnosis, management, and long‐term outcome in thirty‐two children, J Pediatr., 120, 381, 10.1016/S0022-3476(05)80901-1 O’Brien, 2005, Autonomic function in children with congenital central hypoventilation syndrome and their families, Chest., 128, 2478, 10.1378/chest.128.4.2478 Weese-Mayer, 2003, Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b, Am J Med Genet A., 123, 267, 10.1002/ajmg.a.20527 Amiel, 2003, Polyalanine expansion and frameshift mutations of the paired‐like homeobox gene PHOX2B in congenital central hypoventilation syndrome, Nat Genet., 33, 459, 10.1038/ng1130 Bygarski, 2013, Extreme intra‐familial variability of congenital central hypoventilation syndrome: a case series, J Med Case Rep., 7, 117, 10.1186/1752-1947-7-117 Dubreuil, 2009, Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons, J Neurosci., 29, 14836, 10.1523/JNEUROSCI.2623-09.2009 Parodi, 2008, Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome, Hum Mut., 29, 206, 10.1002/humu.9516 Trochet, 2008, PHOX2B germline and somatic mutations in late‐onset central hypoventilation syndrome, Am J Respir Crit Care Med., 177, 906, 10.1164/rccm.200707-1079OC Bachetti, 2014, Recurrence of CCHS associated PHOX2B poly‐alanine expansion mutation due to maternal mosaicism, Pediatr Pulmonol., 49, E45, 10.1002/ppul.22790 Bittencourt, 2012, Late‐onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report, Sleep Breath., 16, 951, 10.1007/s11325-011-0614-x Vargas, 2001, Organic acidurias: diagnosis and treatment, Revista AMSRIGS., 45, 77 Gelwane, 2013, Intermittent hyperglycemia due to autonomic nervous system dysfunction: a new feature in patients with congenital central hypoventilation syndrome, J Pediatr., 162, 171, 10.1016/j.jpeds.2012.06.036 Marics, 2013, Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome, Acta Paediatr., 102, e178, 10.1111/apa.12125