Leukocyte granulation abnormality associated with normal neutrophil function and neurologic impairment

This article describes studies of two unrelated patients, ages 5.5 and 26 years, with leukocyte granulation abnormalities similar to those in the Chediak-Higashi syndrome. Both patients presented with neurologic manifestations characterized by psychomotor impairment, but neither had any evidence of oculocutaneous albinism, photophobia, or increased susceptibility to pyogenic infection. The leukocytes were studied for cytochemical, ultrastructural, ultrastructural cytochemical, and functional characteristics. Abnormal granules were present in neutrophils, eosinophils, basophils, monocytes, and lymphocytes; in the neutrophil series the abnormalities involved both the azurophilic and specific granules. On ultrastructural examination, the abnormal granules in the neutrophils were found to result from fusion of both peroxidase-positive and peroxidase-negative granules. Large numbers of normal granules were also present. The abnormal large granules in the eosinophils and basophils were the result of fusion of normal granules. The neutrophil function studies showed normal chemotaxis, chemiluminescence, bactericidal activity, and nitro-blue tetrazolium reduction. The normal neutrophil function studies were paralleled by the clinical histories in that neither patient had a history of severe infectious episodes.