Lipid storage disease.

IN 1954 Sawitsky, Hyman and Hyma& described a lipid storage disorder in two young adults characterized by the presence in the bone marrow smears of large histiocytes with a distinctive blue staining granular cytoplasm. Subsequently, three additional cases have been reported and in this article a sixth case is presented along with a discussion of various aspects of the disorder.24 CASE REI'oRT The patient, Mrs. A. C., a 34-year-old white woman of Irish extraction, was first seen at the Hematology Laboratory (Tufts) of the Boston City Hospital on November 4, 1961. She had been admitted to another hospital 5 months previously with complaints of weakness, fatigue and a severe headache. On physical examination an enlarged spleen was found. Although there were no hematologic abnormalities, a bone ularrow aspiration was carried out, and large histiocytes with blue staining cytoplasm were noted in the Wright-stained smears. Her past history was significant in that at the age of 17 she was admitted to the Bos-ton City Hospital because of swelling of the ankles, and at that time the spleen was found to be enlarged 3 cm. below the costal margin. In 1957 when she was 1 month pregnant, the patient was admitted to a Boston hospital for investigation of fatigue and symptoms including palpitation and sweating. Cardiac, renal and thyroid studies revealed nothing of importance except a first-degree heart block. No mention of splenomegaly was made in the record of this admission. There was no family history of splenomegaly or storage disease. The patient was gravicla Ix, and she had lost five infants in early pregnancy and at term for unknown causes; the four surviving children were in good health. At the time of the present examination the patient was extremely nervous but the only positive physical finding was the presence of a spleen extending 5 cm. below the costal margin. Blood studies were within normal limits, and bone marrow aspirations were carried out from the iliac crest and the spinous process of the twelfth dorsal vertebra. These Wright-stained marrow smears showed many large storage cells with blue, granular cytoplasm, scattered among a population of normal myeloid and erythroid elements. The patient's father, three brothers and her four children were examined, but in none of these individuals were enlarged spleens noted.