Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review

Journal of Pediatric Surgery

Volumn 43, Issue 5, 2008, Pages

  Nakakimura, Shigeru ^a   Sasaki, Fumiaki ^a   Okada, Tadao ^a   Arisue, Atsuhiro ^a   Cho, Kazutoshi ^a   Yoshino, Masami ^a   Kanemura, Yonehiro ^a   Yamasaki, Mami ^b   Todo, Satoru ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA NATIONAL HOSPITAL   (Japan)

Author keywords

Acrocallosal syndrome; Congenital hydrocephalus; Hirschsprung's disease; L1CAM gene

Indexed keywords

CELL ADHESION MOLECULE; L1 CELL ADHESION MOLECULE;

ACROCALLOSAL SYNDROME; ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CELL ADHESION; CELL MIGRATION; CLINICAL FEATURE; CONGENITAL HYDROCEPHALUS; CONSTIPATION; CORPUS CALLOSUM; DIFFERENTIAL DIAGNOSIS; FETUS; GENETIC DISORDER; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ILEOSTOMY; MALE; MYELINATION; NERVE FIBER GROWTH; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECTUM BIOPSY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CORPUS CALLOSUM; FETAL DISEASES; HIRSCHSPRUNG DISEASE; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEURAL CELL ADHESION MOLECULE L1; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 43449136765     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2007.12.069     Document Type: Article

References (22)

1. Basel-Vanagaite L., Straussberg R., Friez M.J., et al. Expanding the phenotypic spectrum of L1CAM-associated disease. Clin Genet 69 (2006) 414-419
2. Kenwrick S., Watkins A., and De Angelis E. Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum Mol Genet 9 (2000) 879-886
3. Courtens W., Vamos E., Christophe C., et al. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. Am J Med Genet 69 (1997) 17-22
4. Schrander-Stumpel C., and Tryns J.P. Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counseling. Eur J Pediatr 157 (1998) 355-362
5. Jansen J. Sex-linked hydrocephalus. Dev Med Child Neurol 17 (1975) 633-640
6. Mochizuki Y., Suyehiro Y., Ihara Y., et al. Congenital hydrocephalus and clasped thumbs: two cases of brothers in a family. Brain Dev 3 (1981) 407-409
7. Holmes L.B., Nash A., ZuRhein G.M., et al. X-linked aqueductal stenosis: clinical and neuropathological findings in two families. Pediatrics 51 (1973) 697-704
8. Schinzel A., and Schmid W. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation and additional anomalies in two unrelated parents: a new syndrome. Am J Med Genet 6 (1980) 241-249
9. Thyen U., Bartsch O., and Herb E. Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Neuropediatrics 23 (1992) 292-296
10. Koening R., Bach A., Woelki U., et al. Spectrum of the acrocallosal syndrome. Am J Med Genet 108 (2002) 7-11
11. Ravitch M.M., Welch K.J., Benson C.D., et al. Pediatric surgery (1979), Year Book Medical Publishers, Chicago
12. Fryns J.P., Spaepen A., Cassiman J.J., et al. X-linked complicated spastic paraplegia, MASA syndrome, and X-linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. J Med Genet 28 (1991) 429-431
13. Amiel J., and Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38 (2001) 729-739
14. Jennifer K. Hirschsprung's disease: diagnosis and management. Am Fam Physician 74 (2006) 1319-1322
15. 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
16. Chakravarti A., McCallion A.S., and Lyonnet S. Hirschsprung disease. The metabolic and molecular bases of inherited disease (2004), The McGraw-Hill Companies, New York (NY) 1-47
17. Brooks A.S., Bertoli-Avella A.M., Burzynski G.M., et al. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet 77 (2005) 120-126
18. Ikawa H., Kawano H., Takeda Y., et al. Impaired expression of neural cell adhesion molecule L1 in the extrinsic nerve fibers in Hirschsprung's disease. J Pediatr Surg (1997) 542-545
19. Okamoto N., Rolando D.M., Rebeca V., et al. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. J Hum Genet 49 (2004) 334-337
20. Parisi M.A., and Kapur R.P. Genetics of Hirschsprung disease. Curr Opin Pediatr 12 (2000) 610-617
21. Hofstra R.M., Elffierich P., Osinga J., et al. Hirschsprung disease and L1CAM: is the sex ratio caused by L1CAM mutation?. J Med Genet 39 (2002) E11
22. Melissa A.P., Raj P.K., Ian N., et al. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?. Am J Med Genet 108 (2002) 51-56