Clinical Neurology and Neurosurgery
Volume 111, Issue 1 , Pages 102-104 , January 2009

Treatable fluctuating mental impairment in a patient with Bardet–Biedl syndrome

  • Yasuyo Tonomura

      Affiliations

    • Department of Neurology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • ,
  • Makito Hirano

      Affiliations

    • Department of Neurology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81 744 22 3051; fax: +81 744 24 6065.
    • ,
  • Keiji Shimada

      Affiliations

    • Department of Pathology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • ,
  • Hirohide Asai

      Affiliations

    • Department of Neurology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • ,
  • Masanori Ikeda

      Affiliations

    • Department of Neurology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • ,
  • Hiroshi Kataoka

      Affiliations

    • Department of Neurology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • ,
  • Ichiro Tanaka

      Affiliations

    • Department of Pediatrics, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • ,
  • Noboru Konishi

      Affiliations

    • Department of Pathology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan
    • ,
  • Satoshi Ueno

      Affiliations

    • Department of Neurology, Nara Medical University School of Medicine, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan

Received 25 February 2008 ,Revised 26 May 2008 ,Accepted 1 August 2008.

References 

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  2. Biedl A. Geschwisterpaar mit adiposo-genitaler Dystrophie. Dtsch Med Wochenschr. 1922;48:1630
  3. Solis-Cohen S, Weiss E. Dystrophia adiposogenitalis, with atypical retinitis pigmentosa and mental deficiency—the Laurence–Biedl syndrome. A report of four cases in one family. Am J Med Sci. 1925;169:489–505
  4. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, et al. Identification of a novel BBS gene (BBS 12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Barfet–Biedl syndrome. Am J Hum Genet. 2007;80:1–11
  5. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–446
  6. McLoughlin TG, Shanklin DR. Pathology of Laurence–Moon–Bardet–Biedl syndrome. J Pathol Bacteriol. 1967;93(1):65–79
  7. Ross CF, Crome L, Mackenzie DY. The Laurence–Moon–Biedl syndrome. J Payh Bact. 1956;LXXII:161–172
  8. Nakamura F, Sasaki H, Kajihara H, Yamanoue M. Laurence–Moon–Biedl syndrome accompanied by congenital hepatic fibrosis. J Gastroenterol Hepatol. 1990;5(2):206–210
  9. Pagon RA, Haas JE, Bunt AH, Rodaway KA. Hepatic involvement in the Bardet–Biedl syndrome. Am J Med Genet. 1982;13(4):373–381
  10. Roussel B, Leroux B, Gaillard D, Fandre M. Laurence–Moon–Bardet–Biedl syndrome, chronic diffuse tubulo-interstitial nephritis and liver involvement. Helv Paediatr Acta. 1985;40(5):405–413
  11. The Examination Committee of Criteria for ‘Obesity Disease’ in Japan, Japan Society for the Study of Obesity. New criteria for ‘obesity disease’ in Japan. Circ J. 2002;66:987–992
  12. Harmanci O, Bayraktar Y. Clinical characteristics of idiopathic portal hypertension. World J Gastroenterol. 2007;13(13):1906–1911
  13. Morgan MY. Cerebral magnetic resonance imaging in patients with chronic liver disease. Metab Brain Dis. 1998;13(4):273–290
  14. Kenneth LJ. Bardet–Biedl syndrome: Smith’s recognizable patterns of human malformation. 5th ed.. Saunders Company; 1997;590–591
  15. Tobin JL, Beales PL. Bardet–Biedl syndrome: beyond the cilium. Pediatr Nephrol. 2007;22:926–936
  16. Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, et al. Disruption of Bardet–Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet. 2005;37:1135–1140
  17. Tobin JL, Franco MD, Eichers E, May-Simera H, Garcia M, Yan J, et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet–Biedl syndrome. Proc Natl Acad Sci USA. 2008;105:6714–6719

PII: S0303-8467(08)00268-0

doi: 10.1016/j.clineuro.2008.08.008

Clinical Neurology and Neurosurgery
Volume 111, Issue 1 , Pages 102-104 , January 2009

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