Chediak's anomaly of leukocytes in malignant lymphoma associated with leukemic manifestations: case report with necropsy.

By P. EFRATI AND W. JONAS CHEDIAK, in 1952, published the first case of an anomaly of leukocytes, which was named after him. The patient was a young boy who died two years after the examination. In addition to the bctikocytc anomaly he exhibited hepatosp!enomegaly, lymphadenopathy, anemia, thrombocytopenia and neutropenia. The boy and his three brothers were albinos with marked photophobia. They all died before the age of seven years from repeated infections. Unfortunately no necropsy was performed. The parents were cousins. In 1954, Higashi published the second case of Chediak’s anomaly in an 11month-old Japanese boy whose parents were cousins; his three brothers had died previously. In addition to the signs observed by Chediak there were changes in the skin compatible with xeroderma pigmentosum. In 1957, Donohuc and Bain from Toronto, described the third case. Their patient, a girl, aged two years and ten months, suffered from marked photophobia, thirst, profuse perspiration, repeated infections and skin rashes. Her hair was fair, very dry and sparse. She presented various neurobogic symptoms, generalized lymphadenopathy and hepatosplenomegaly. She died 18 months after the first examination and in the last weeks was jaundiced. The necropsy revealed diffuse infiltration of all the organs with peculiar round cells, severe inflammatory changes in the lungs and the nervous system. The parents were not related. In 1955, we observed a case of Chediak’s anomaly with leukemic manifestations. The child died soon afterwards and necropsy revealed changes characteristic of a malignant lymphoma. We believe that our case may add additional light to the understanding of this anomaly.