Anomalous panleukocytic granulation is described in the peripheral blood, bone marrow and spleen of a 3 year old girl. Myeloid leukocytes showed giant peroxidase and Sudan Black B-positive granules. Lymphocyte corpuscles were positive in the periodic acid-Schiff test. Deviations in the structure and segmentation of the neutrophil nuclei were observed. Increase of gamma globulins and decrease of lipoproteins were found in the blood serum.
Hepatosplenomegaly, psychomotor underdevelopment, respiratory tract infections, roentgenologic changes of bones, lungs and heart were also found. The parents were first cousins, and anomalous corpuscles were seen in the father’s lymphocytes.
At necropsy diffuse or focal infiltration of the organs by lymphoid, plasma and reticular cells suggested a systemic condition.