Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation

Journal of Pediatric Surgery

Volumn 42, Issue 2, 2007, Pages

  Ou Yang, Mei Chen ^a   Yang, San Nan ^a   Hsu, Yung Ming ^a   Ou Yang, Mei Hui ^a   Haung, Hsin Chun ^a   Lee, Shin Yi ^b   Hsieh, Wu Shiun ^c   Su, Yi Ning ^c   Liu, Chieh An ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Congenital central hypoventilation syndrome; Hirschsprung's disease; PHOX2B gene mutation; Total colonic aganglionosis with small bowel involvement

Indexed keywords

ANTIBIOTIC AGENT;

AGANGLIONOSIS; ARTICLE; BLOOD TRANSFUSION; CASE REPORT; CLINICAL EXAMINATION; DIGESTIVE TRACT INTUBATION; DISEASE COURSE; ENTERIC FEEDING; EXTUBATION; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOVENTILATION; MALE; NEWBORN; NEWBORN INTENSIVE CARE; PARENTERAL NUTRITION; PATIENT TRANSPORT; PHOX2B GENE; POLYSOMNOGRAPHY; PRIORITY JOURNAL; SMALL INTESTINE; TREATMENT OUTCOME;

DISEASE PROGRESSION; FATAL OUTCOME; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; HYPOVENTILATION; INFANT, NEWBORN; MALE; MULTIPLE ORGAN FAILURE; MUTATION; MUTATION, MISSENSE; RARE DISEASES; RISK ASSESSMENT; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33846524851     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2006.10.022     Document Type: Article

References (18)

1. Seri M., Yin L., Barone V., et al. Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum Mutat 9 (1997) 243-249
2. Ikeda K., and Goto S. Diagnosis and treatment of Hirschsprung's disease in Japan. An analysis of 1628 patients. Ann Surg 199 (1984) 400-405
3. Mellins R.B., Balfour H.H., Turino G.M., 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 49 (1970) 487-504
4. Gozal D. Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol 26 (1998) 273-282
5. Trang H., Dehan M., Beaufils F., et al. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest 127 (2005) 72-79
6. Haddad G.G., Mazza N.M., Defendini R., et al. Congenital failure of autonomic control of ventilation, gastrointestinal motility and heart rate. Medicine 57 (1978) 517-526
7. Amiel J., Laudier B., Attie-Bitach T., et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33 (2003) 459-461
8. Trochet D., O'Brien L.M., Gozal D., et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 76 (2005) 421-426
9. Garcia-Barcelo M., Sham M.H., Lui V.C., et al. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut 52 (2003) 563-567
10. Croaker G.D., Shi E., Simpson E., et al. Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child 78 (1998) 316-322
11. Sasaki A., Kanai M., Kijima K., et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet 114 (2003) 22-26
12. Weese-Mayer D.E., Silvestri J.M., Menzies L.J., et al. Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. J Pediatr 120 (1992) 381-387
13. Rohrer T., Trachsel D., Engelcke G., et al. Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies. Pediatr Pulmonol 33 (2002) 71-76
14. Yanchar N.L., and Soucy P. Long-term outcome after Hirschsprung disease: patients' perspectives. J Pediatr Surg 34 (1999) 1152-1160
15. Anonymous. Ethics and the care of critically ill infants and children. American Academy of Pediatrics, Committee on Bioethics. Pediatrics 98 (1996) 149-152
16. Fine R.L., Whitfield J.M., Carr B.L., et al. Medical futility in the neonatal intensive care unit: hope for a resolution. Pediatrics 116 (2005) 1219-1222
17. Weese-Mayer D.E., Berry-Kravis E.M., Zhou L., et al. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutation in PHOX2B. Am J Med Genet 123 (2003) 267-278
18. Garcia-Barcelo M., Sham M.H., Lui V.C., et al. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut 52 (2003) 563-567