Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant

Pediatrics

Volumn 115, Issue 6, 2005, Pages

  Bajaj, Ramesh ^a   Smith, Janine ^b,c   Trochet, Delphine ^d   Pitkin, John ^b   Ouvrier, Robert ^b   Graf, Nicole ^b   Sillence, David ^b   Kluckow, Martin ^a  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Aganglionosis; Congenital central hypoventilation syndrome; Hypoventilation; Preterm infant

Indexed keywords

AGANGLIONOSIS; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CELL MIGRATION; CLINICAL FEATURE; DYSPNEA; GENE; GENE MUTATION; GESTATIONAL AGE; HADDAD SYNDROME; HIRSCHSPRUNG DISEASE; HUMAN; HYPOVENTILATION; INFANT; MALE; NEURAL CREST; NEUROLOGIC DISEASE; PHENOTYPE; PHOX2B GENE; PREMATURITY; PRIORITY JOURNAL; AUTONOMIC GANGLION; CELL LINEAGE; CELL MOTION; FATALITY; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; INTESTINE PSEUDOOBSTRUCTION; NEWBORN; PATHOLOGY; PHYSIOLOGY; SYNDROME;

HOMEODOMAIN PROTEIN; NBPHOX PROTEIN; TRANSCRIPTION FACTOR;

CELL LINEAGE; CELL MOVEMENT; FATAL OUTCOME; FRAMESHIFT MUTATION; GANGLIA, AUTONOMIC; GESTATIONAL AGE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; HYPOVENTILATION; INFANT, NEWBORN; INFANT, PREMATURE; INFANT, PREMATURE, DISEASES; INTESTINAL PSEUDO-OBSTRUCTION; MALE; NEURAL CREST; SEQUENCE DELETION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 26044454854     PISSN: 00314005     EISSN: 00314005     Source Type: Journal    
DOI: 10.1542/peds.2004-1910     Document Type: Article

References (14)

1. Bolande RP. The neurocristopathy. Hum Pathol. 1974;5:409-429
2. Haddad GG, Mazza NM, Defendini R, et al. Congenital failure of autonomic control of ventilation, gastrointestinal motility and heart rate. Medicine. 1978;57:517-526
3. 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. 2003a;33:459-461
4. Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. 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. 2003;123A:267-278
5. Sasaki A, Kanai M, Kijima K, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003;114:22-26
6. Matera I, Bachetti T, Puppo F, et al. PHOX2B mutations and polyalanine expansion correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. J Med Genet. 2004;41:373-380
7. Croaker GDH, Shi E, Simpson E, et al. Congenital central hypoventilation syndrome and Hirschprung's disease. Arch Dis Child. 1998;78:316-322
8. Weese-Mayer DE, Silvestri JM, Menzies LJ, et al. CCHS: diagnosis, management and outcome in thirty-two children. J Pediatr. 1992;120:381-387
9. 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. 2002;33:71-76
10. American Thoracic Society statement: idiopathic congenital central hypoventilation syndrome diagnosis and management. Am J Respir Crit Care Med. 1999;160:368-373
11. Minutillo C, Pemberton PJ, Goldblatt J. Hirschprung's disease and Ondine's curse: further evidence for a distinct syndrome. Clin Genet. 1989;36:200-203
12. Hamilton J, Bodurtha JN. Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. J Med Genet. 1989;26:272-279
13. Sritippayawan S, Hamutcu R, Kun SS, et al. Mother-daughter transmission of congenital central hypoventilation syndrome. Am J Respir Crit Care Med. 2002:166:367-369
14. Silvestri JM, Chen ML, Weese-Mayer DE, et al. Idiopathic congenital central hypoventilation syndrome: the next generation. Am J Med Genet. 2002:112:46-50