CHEDIAK-HIGASHI DISEASE (REPORT ON A NEW CASE)

  • 1 January 1978
    • journal article
    • research article
    • Vol. 105  (10) , 841-849
Abstract
A typical case of Chediak-Higashi [CH] disease is reported in a French 4 yr old boy (no parental consanguinity). The clinical aspect of oculo-cutaneous and pilar hypopigmentation, associated with recurrent infections led to the diagnosis of CH disease which was confirmed by the presence of giant leukocytes granulations in the blood and giant melanosomes in epidermal melanocytes. These giant pigmented granules, were made of a limiting unique membrane with granular matrix and, periodic filamentous structures, which corresponded to stage I, II and III melanosomes. In keratinocytes, melanosomes were rare, never isolated and scattered in cytoplasm, but grouped in giant melanosomes complexes. No specific immuno deficiency was found in this patient but the chemotaxis was decreased but restored by levamisole treatment. Concanavalin [Con] A cap formation by polymorphonuclear leukocytes was abnormally increased, but returned to a normal level after cyclic GMP incubation and levamisole treatment. Unfortuntely, the patient died soon after accelerated phase had begun, in an anatomo-clinical picture of pseudo-lymphoma. A pathogenic discussion of CH disease was presented using 102 literature cases.