Abstract
A 9-month-old Turkish boy was diagnosed as having Griscelli disease (Chediak-Higashi-like syndrome). Clinical signs consisted of silver-grey hair and a relatively light skin colour, recurrent episodes of fever, with or without detectable infections, increasing hepatosplenomegaly, hypotonia and motor retardation. Laboratory studies showed pancytopenia of varying degree but neither inclusion bodies nor vacuoles were seen in his leucocytes. Serum immunoglobulin levels were normal except for a IgG2 deficiency. In the mixed lymphocyte reaction the stimulation capacity of the leucocytes was decreased. Microscopic examination of his hair and electron-microscopic examination of a skin biopsy further confirmed the diagnosis. Shortly before the diagnosis was made, the child developed cerebral symptoms with hemiparesis and convulsions. A CT scan suggested cell infiltration of the brain. A few weeks later the boy died of an infection.
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Alter BJ, Bach FH (1970) Lymphocyte reactivity in vitro I. Cellular reconstruction of purified lymphocyte responce. Cell Immunol 1:207–218
Ambruso DR, Hays T, Zwartjes WJ, Tubergen DG, Favara BE (1980) Successful treatment of lymphohistiocytic reticulosis with phagocytosis with epiphylotoxin VP 16-213. Cancer 45:2516–2520
Bakkeren JAJM, Vaan GAM de, Hillen HFP (1979) Interrelationship of immunologic characteristics, proliferation pattern and prednisone sensitivity in acute lymphoblastic leukemia of childhood. Blood 53:883–891
Bell TG, Meyers KM, Prieur DJ, Fauci AS, Wolff SM, Padgett GA (1976) Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets. Blood 48(2):175–184
Buchanan GR, Handin RI (1976) Platelet function in the Chediak-Higashi syndrome. Blood 47:941–948
Creaven PJ (1982) The clinical pharmacology of VM 26 and VP 16-213. Cancer Chemother Pharmacol 7:133–140
De Korte D, Haverkort A, Gennip AH van, Roos D (1985) Nucleotide profiles of normal human blood cells determined by high-performance liquid chromatography. Anal Biochem 147:197–209
Fischer A, Virelizier JL, Arenzana-Seisdedos F, Perez N, Nezelof C, Griscelli C (1985) Treatment of four patients with erythrophagocytic lymphohistiocytosis by a combination of epipodophyllotoxin, steroids, intrathecal methotrexate and cranial irradiation. Pediatrics 76:263–268
Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:698–702
Griscelli C, Geha R, Durandy A, Le Deist 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 Science Publishers, Amsterdam, pp 273–277
Hamers MN, Bot AAM, Weening RS, Sips HJ, Roos D (1984) Kinetics and mechanism of the bactericidal action of human neutrophils againstEscherichia coli. Blood 64:635–641
Hirschberg H, Braathen LR, Thorsby E (1982) Antigen presentation by vascular endothelial cells and epidermal Langerhans cells. The role of HLA-DR. Immunol Rev 65:56–77
Katz P, Zaytoun M, Fauci AS (1982) Deficiency of active natural killer cells in the Chediak-Higashi syndrome. J Clin Invest 69:1231–1238
Larregue M, Buriot D, Prigent F, Lorette G, Marié M, Degos R (1981) Les cheveux argentés chez l'enfant. Symptome d'appel des maladies leucogranulocytaires et mélanocytaires. Ann Dermatol Venerol 108:329–340
Metlay JP, Puré E, Steinman RM (1989) Distinct features of dendritic cell and anti-Ig activated B cells as stimulators of the primary mixed leukocyte reaction. J Exp Med 169:239–254
Rendu F, Breton-Gorius J, Lebret M, Klebanoff C, Buriot D, Griscelli C, Levy-Toledano S, Caen JP (1983) Evidence that abnormal platelet functions in human Chediak-Higashi syndrome are the result of a lack of dense bodies. Am J Pathol 111:307–314
Roos D, Weening RS, Voetman AA, Schaik MLJ van, Bot AAM, Meerhof LJ, Loos JA (1979) Protection of phagocytic leukocytes by endogenous glutathione: Studies in a family with glutathione reductase deficiency. Blood 53:851–866
Steinman RM, Nussenzweig MC (1980) Dendritic cells: features and functions. Immunol Rev 53:127–147
Stingl G, Tamaki K, Katz SI (1980) Origin and function of epidermal Langerhans cells. Immunol Rev 53:149–174
Stjernswärd J, Jondal M, Venky F, Wigzell H, Sealy R (1972) Lymphopenia and change in distribution of human B and T lymphocytes in peripheral blood induced by irradiation for mammary carcinoma. Lancet I:1352–1356
Weemaes CMR, Bakkeren JAJM, Ter Haar BGA, Hustinx TWJ, Munster PJJ van (1979) Immune response in four patients with Bloom syndrome. Clin Immunol Immunopathol 12:12–19
Weening RS, Schoorel EP, Roos D, Schaik MLJ van, Voetman AA, Bot AAM, Batenburg-Plenter AM, Willems C, Zeijlemaker P, Astaldi A (1981) Effect of ascorbate on abnormal neutrophil, platelet, and lymphocyte function in a patient with the Chediak-Higashi syndrome. Blood 57:856–865
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Haraldsson, Á., Weemaes, C.M.R., Bakkeren, J.A.J.M. et al. Griscelli disease with cerebral involvement. Eur J Pediatr 150, 419–422 (1991). https://doi.org/10.1007/BF02093723
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DOI: https://doi.org/10.1007/BF02093723