Chediak-Higashi syndrome in a black infant. A light and electron microscopic study with special emphasis on...

Clinicopathologic observations in the case of a black infant with Chediak-Higashi syndrome are reported. Light and electron microscopic examination of spleen, liver and lymph nodes revealed abnormal large lysosomes as well as marked erythrophagocytosis without hemosiderosis in infiltrating histiocytes and Kupffer cells. In addition, there were abnormal ocular findings. It is suggested that the erythrophagocytosis without hemosiderosis might also be a specific anatomic expression of this disease due to defective lysosomal digestion of phagocytosed erythrocytes.