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.

Terminal deoxynucleotidyl transferase (TdT)-positive cells in bone marrow in the absence of hematologic malignancy.

An indirect immunofluorescent technic was used to identify cells with terminal deoxynucleotidyl transferase (TdT) activity in bone marrow smears from 169 patients without a clinically or morphologically apparent hematologic malignancy: 73 normal individuals, 27 bone marrow transplant recipients, 25 with neuroblastoma or retinoblastoma, 19 with acute lymphoblastic leukemia (ALL) in remission, and 25 with miscellaneous benign conditions. In selected cases, additional bone marrow smears were investigated for TdT-positive cells, using one of two immunoperoxidase methods, the peroxidase-antiperoxidase (PAP) technic or the avidin-biotin-peroxidase complex (ABC) technic. Superior preparations were obtained using the ABC technic. Fifty-eight of the 169 smears contained 2% or more TdT-positive cells, range 2%-20%. The morphologic characteristics of the TdT-positive cells in phase-contrast illumination and in Wright's-Giemsa counterstained immunoperoxidase preparations indicated that many of these cells may be hematogones. TdT-positive cells in the bone marrow of a patient with ALL in remission following chemotherapy or bone marrow transplantation do not necessarily denote relapse.