Skip to main content
SpringerLink
Log in

A patient with features of both Bardet-Biedl and Alström syndromes

  • Medical Genetics
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic hypogonadism, pigmentary degeneration of the retina and cerebellar, pyramidal and posteri-or columnar involvement. He had normal mental function, normal hearing and no hexadactyly. The patient had symptoms of both Bardet-Biedl and Alström syndromes, but did not manifest all the main features of either syndrome. This suggests either that the Bardet-Biedl, Alström, Laurence-Moon syndromes (including the variant described by Edwards) have a highly variable expression or that our case is a new variant within this group of syndromes.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Bell J (1958) The Laurence-Moon syndrome. In: Penrose LS (ed) Treasury of human inheritance, vol 5, part III. Cambridge University Press, London, pp 51–96

    Google Scholar 

  2. Cagianut B, Hochstrasser P, Rhyner K (1977) Diabetes juvenilis, tapeto-retinale Degeneration, neurogene Schwerhörigkeit (Alström-Syndrom) assoziiert mit einer kongenitalen dyserythropoietischen Anämie Typ III. Schweiz Med Wochenschr 107:446–450

    PubMed  Google Scholar 

  3. Edwards JA, Sethi PK, Scoma AJ, Bannerman RM, Frohman LA (1976) A new familial syndrome characterized by pigmentary retinopathy, hypogonadism mental retardiation, nerve deafness and glucose intolerance. Am J Med 60:23–32

    Article  PubMed  Google Scholar 

  4. Goldstein JL, Fialkow PJ (1973) The Alström syndrome. Report of three cases with further delineation of the clinical pathophysiological and genetic aspects of the disorder. Medicine 52: 53–71

    PubMed  Google Scholar 

  5. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W (1989) The cardinal manifestations of the Bardet-Biedl syndrome, a form of the Laurence-Moon-Biedl syndrome N Engl J Med 321:1002–1009

    PubMed  Google Scholar 

  6. Iheda Y, Norita Y, Nalsuo Y, Akanuma Y, Itakura H (1974) A case of Alström's syndrome associated with situs inversus totalis and characteristic liver cirrhosis. Nippon Naika Gakkai Zasshi 63:1303–1311

    PubMed  Google Scholar 

  7. Jones KL (1988) The Bardet-Biedl syndrome. In: Smith's recognitable patterns of human malformation. Saunders, Philadelphia, pp 530–531

    Google Scholar 

  8. Klein D (1968) Sur quelques variétés cliniques et génétiques du syndrome de Bardet-Biedl. Rev Oto-neuro-ophtalmol 3: 125–144

    Google Scholar 

  9. Klein D, Amman F (1969) The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 9:479–513

    Article  PubMed  Google Scholar 

  10. Klein D, Jenny R (1956) Dystrophic adiposo-génitale familiale (Babinski-Fröhlich) avec consanguinité des parents et sa relation avec le syndrome de Bardet-Biedl. Rev Oto-neuro ophthal 28:368–370

    Google Scholar 

  11. Laurence JZ, Moon RC (1866) Four cases of retinitis pigmentosa occuring in the same family and accompanied by general imperfections of development. Ophthalmol Rev (old series) 2: 32–41

    Google Scholar 

  12. Millary RH, Weleber RG, Heckenliverly JR (1986) Ophthalmologic and systemic manifestations of Alström's disease. Am J Ophthalmol 102:482–490

    PubMed  Google Scholar 

  13. Pfeiffer RA, Pusch R (1979) Das Syndrom von Alström. Klinische Genetik in der Pädiatrie. I. Symposion Kiel, Juli 1978. Thieme, Stuttgart, pp 49–57

    Google Scholar 

  14. Rüdiger HW, Ahrens P, Dreyer M, Frorath B, Löffel C Schmidt-Preuß U (1985) Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. Hum Genet 69:76–78

    Article  PubMed  Google Scholar 

  15. Schachat AP, Maumenee IH (1982) Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 100:28

    Google Scholar 

  16. Sebag J, Albert DM, Craft JL (1984) The Alström syndrome: ophthalmic histopathology and retinal ultrastructure. Br J Ophthalmol 68:494–501

    PubMed  Google Scholar 

  17. Weinstein RL, Kliman B, Scully RE (1969) Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities. N Engl J Med 281:969–977

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, Hôpital Cantonal Universitaire, CH-1211, Geneva 4, Switzerland

    C. Hauser, E. Schmied & J. -H. Saurat

  2. Department of Medicine, Hôpital Cantonal Universitaire, CH-1211, Geneva 4, Switzerland

    C. Rojas

  3. Department of Ophthalmology, Hôpital Cantonal Universitaire, CH-1211, Geneva 4, Switzerland

    A. Roth

Authors
  1. C. Hauser
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. Rojas
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Roth
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. E. Schmied
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. -H. Saurat
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hauser, C., Rojas, C., Roth, A. et al. A patient with features of both Bardet-Biedl and Alström syndromes. Eur J Pediatr 149, 783–785 (1990). https://doi.org/10.1007/BF01957281

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01957281

Key words

Search

Navigation