Pediatric Neurology
Volume 29, Issue 2 , Pages 157-159 , August 2003

Septo-optic dysplasia with congenital hepatic fibrosis

  • Koichi Minami, MD

      Affiliations

    • Department of Pediatrics, Wakayama Medical University School of Medicine, Wakayama, Japan.
    • Corresponding Author InformationCommunications should be addressed to:Dr. Minami; Department of Pediatrics, Wakayama Medical University School of Medicine; 811-1 Kimiidera; Wakayama 641-0012, Japan.
    • ,
  • Genkichi Izumi, MD

      Affiliations

    • Department of Pediatrics, Wakayama Medical University School of Medicine, Wakayama, Japan.
    • ,
  • Toshihiko Yanagawa, MD

      Affiliations

    • Department of Pediatrics, Wakayama Medical University School of Medicine, Wakayama, Japan.
    • ,
  • Yozo Shimoyamada, MD

      Affiliations

    • Department of Pediatrics, Wakayama Medical University School of Medicine, Wakayama, Japan.
    • ,
  • Norishige Yoshikawa, MD

      Affiliations

    • Department of Pediatrics, Wakayama Medical University School of Medicine, Wakayama, Japan.

Received 4 September 2002 ,Accepted 4 February 2003.

References 

  1. de Morsier G. Etudes sur les dystrophies cranioencephaliques (Agenesie du septum lucidum avec malformation du tractus optique: La dysplasie septo-optique). Schweiz Arch Neurol Neurochir Psychiatr. 1956;77:267–292
  2. Hoyt WF, Kaplan SL, Grumbach MM, et al.  Septo-optic dysplasia and pituitary dwarfism. Lancet. 1970;1:893–894
  3. Morishima A, Aranoff GS. Syndrome of septo-optic-pituitary dysplasia (The clinical spectrum). Brain Dev. 1986;8:233–239
  4. Kerr DNS, Harrison CN, Sherlock S, et al.  Congenital hepatic fibrosis. Q J Med. 1961;30:91–117
  5. Barkovich AJ, Fram EK, Norman D. Septo-optic dysplasia (MR imaging). Radiology. 1989;171:189–192
  6. Margalith D, Jun Tze W, Jan JE. Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia (Review of 16 cases). Am J Dis Child. 1985;139:361–366
  7. Thomas PQ, Johnson BV, Rathjen J, et al.  Sequence, genomic organization, and expression of the novel homeobox gene Hesx1. J Biol Chem. 1995;270:3869–3875
  8. Thomas P, Beddington RSP. Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo. Curr Biol. 1998;35:248–250
  9. Dattani MT, Martinez-Barbera JP, Thomas PQ, et al.  Mutation in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 1998;19:125–133
  10. Thomas PQ, Dattani MT, Brickman JM, et al.  Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001;10:39–45
  11. De Vos M, Barbier F, Cuvelier C. Congenital hepatic fibrosis. J Hepatol. 1988;6:222–228
  12. Kerr DNS, Warrick CK, Hant-Mercer JA. Lesion resembling medullary sponge kidney in patients with congenital hepatic fibrosis. Clin Radiol. 1962;13:85–91
  13. Kimura D, Miller JH, Sinatra FR. Septo-optic dysplasia (Recognition of causes of false-positive hepatobiliary scintigraphy in neonatal jaundice). J Nucl Med. 1987;28:966–972
  14. Kaufman FR, Costin G, Thomas DW, et al.  Neonatal cholestasis and hypopituitarism. Arch Dis Child. 1984;59:787–789
  15. Kewitz G, Girard J, Probst A, et al.  Septo-optic pituitary dysplasia (Observations on three patients). Helv Paediatr Acta. 1984;39:355–364
  16. Willnow S, Kiess W, Butenandt O, et al.  Endocrine disorders in septo-optic dysplasia (De Morsier syndrome) (Evaluation and follow-up of 18 patients). Eur J Pediatr. 1996;155:179–184
  17. Murray-Lyon IM, Ockenden BG, Williams R. Congenital hepatic fibrosis (Is it a single clinical entity?). Gastroenterology. 1973;64:653–656

PII: S0887-8994(03)00147-4

doi: 10.1016/S0887-8994(03)00147-4

Pediatric Neurology
Volume 29, Issue 2 , Pages 157-159 , August 2003

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