[Chédiak-Higashi disease (report on a new case) (author's transl)]

A typical case of Chédiak-Higashi disease is reported in a French four years old boy (no parents consanguinity). The clinical aspect of oculo-cutaneous and pilar hypopigmentation, associated with recurrent infections led to the diagnosis of C. H. disease which was confirmed by the presence of giant leukocytes granulations in the blood and giant melanosomes in epidermal melanocytes; these giant pigmented granules, are made of a limiting unique membrane with granular matrix and periodic filamentous structures, which correspond to stade I, II and III melanosomes. In keratinocytes, melanosomes are rare, never isolated and scattered in cytoplasm, but grouped in giant melanosomes complexes. No specific immunity deficiency is found in this patient but the chemotaxis of neutrophil polymorphonuclear leukocytes was decreased but restored by levamisole treatment. Concanavaline A Cap formation by polymorphonuclear leukocytes was abnormally increased, but returned at 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 is presented with the help of a study of 102 cases of literature.