European Journal of Pediatrics

, Volume 152, Issue 5, pp 402–405 | Cite as

A kindred with Griscelli disease: Spectrum of neurological involvement

  • H. Hurvitz
  • R. Gillis
  • S. Klaus
  • A. Klar
  • F. Gross-Kieselstein
  • E. Okon


We report four members of a highly consanguineous family with silver-grey pigmentation of hair, two of whom had skin histology compatible with Griscelli disease. Unlike previously reported patients, they did not suffer from recurrent infections. In addition, there was a spectrum of neurological involvement varying from mild cognitive delay with a convulsive disorder in one patient, to a fatal degenerative course in three others. One patient developed a prolonged febrile illness with histological evidence of florid lymphoid hyperplasia.

Key words

Griscelli Silver hair Cerebral involvement Lymphoid hyperplasia 



Epstein-Barr virus


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Bergstrasser PR, Juarez DV (1984) Detection by immunochemical techniques of cell surface markers on epidermal Langerhans cells. Methods Enzymol 108:683–691PubMedGoogle Scholar
  2. 2.
    Boxer LA, Wanatabe AM, Rister M, Besch HR, Allen J, Baehner RL (1976) Correction of leukocyte functions in Chediak-Higashi syndrome by ascorbate. N Engl J Med 295: 1041–1045PubMedGoogle Scholar
  3. 3.
    Conley ME, Henle W (1987) Acyclovir in accelerated phase of Chediak-Higashi syndrome. Lancet I:212Google Scholar
  4. 4.
    Devendra DP, Yunis EJ (1984) Cellular typing: mixed lymphocyte response and cell mediated lymphocytolysis. In: Rose NR, Freidman H, Fahey JL (eds) Manual of clinical immunology. Am Soc Microbiol:847–857Google Scholar
  5. 5.
    Elejalde BR, Holdguin J, Valencia A, Gilbert EF, Molina J, Martin G, Arango LA (1979) Mutations affecting pigmentation in Man: 1. Neuroectodermal melanolysosomal disease. Am J Med Genet 3:65–80PubMedGoogle Scholar
  6. 6.
    Fabian I, Kletter Y, Bleiberg I, Gadish M, Naparsteck E, Slavin S (1991) Effect of exogenous recombinant human granulocyte and granulocyte/macrophage colony stimulating factor on neutrophil function following allogenic bone-marrow transplantation. Exp Hematol 19:868–873PubMedGoogle Scholar
  7. 7.
    Fabian I, Shapira E, Gadish M, Kletter Y, Nagler A, Flidel O, Slavin S (1991) Effect of human interleukin-3, macrophage and granulocyte/macrophage colony stimulating factor on monocyte function following autologous bone-marrow transplantation. Leuk ResGoogle Scholar
  8. 8.
    Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Pruneiras N (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:698–702Google Scholar
  9. 9.
    Griscelli C, Geha R, Durandy A, LeDeist F, Guy-Grand D, Fischer A, Nezelof C, Cesarini JP (1986) A syndrome of partial albinism and immunodeficiency distinct from the Chediak-Higashi syndrome. Progress in immunodeficiency research and therapy II. Elsevier, AmsterdamGoogle Scholar
  10. 10.
    Haraldsson A, Weemaes CMR, Bakkeren JAJM, Happle R (1991) Griscelli disease with cerebral involvement. Eur J Pediatr 150:419–422PubMedGoogle Scholar
  11. 11.
    Ho M, Miller G, Atchison RW, Breining MK, Drummer JS, Andiman WS, Starzl TE, Eastman BP, Hardest RL, Bahnson HT, Hakala TR, Rosenthal T (1985) Epstein-Barr infection and DNA hybridisation studies in post transplantation lymphoma and lymphoproliferative lesions: the role of primary infection. J Infect Dis 152:876–886PubMedGoogle Scholar
  12. 12.
    Matzner Y (1987) Neutrophil function studies in clinical medicine. Transfusion Med Rev 1:171–181Google Scholar
  13. 13.
    Matzner Y, Konijn AM, Shlomai Z, Ben-Bassat H (1985) Differential effect of isolated placental isoferritins on in vivo T-lymphocyte function. Br J Haematol 59:443–448PubMedGoogle Scholar
  14. 14.
    Pick E, Mizel D (1981) Rapid microassays for the measurement of superoxide and hydrogen production of macrophages in culture using an automatic enzyme immunoassay reader. J Immunol Methods 46: 211–226PubMedGoogle Scholar
  15. 15.
    Rayner A, Grimm EA, Lotze MT, Chu EW, Rosenberg SA (1985) Lymphokyne-Activated Killer (LAK) cells. Analysis of factors relevant to the immunology of human cancer. Cancer 55:1327–1333PubMedGoogle Scholar
  16. 16.
    Rechavi G, Ben-Bassat I, Berkovicz U, Martinowitz F, Brok-Simoni F, Neumann Y, Vansover A, Gotleib-Stematsky T, Ramot B (1987) Molecular analysis of Burkitt's leukemia in two hemophilic brothers with AIDS. Blood 57:1713–1717Google Scholar
  17. 17.
    Weisbart RH, Golde DW, Clark SC, Wong GG, Gasson JC (1985) Human granulocyte-macrophage colony stimulating factor is a neutrophil activator. Nature 314:361–363PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • H. Hurvitz
    • 1
  • R. Gillis
    • 1
  • S. Klaus
    • 2
  • A. Klar
    • 1
  • F. Gross-Kieselstein
    • 1
  • E. Okon
    • 3
  1. 1.Department of PaediatricsBikur Cholim General HospitalJerusalemIsrael
  2. 2.Department of DermatologyHaddasah Medical CentreJerusalemIsrael
  3. 3.Department of PathologyHadassah Medical CentreJerusalemIsrael

Personalised recommendations