Clinical History.—A 2-month-old infant girl was seen with failure to thrive, fever, and organomegaly. Admission laboratory data included a complete blood cell count, with WBC count of 10,600/cu mm, a hemoglobin level of 7.5 g/dL, and normal electrolyte and blood gas values. The chest roentgenogram was normal. The upper half of the abdomen from an intravenous urogram is shown in the Figure. A liver biopsy specimen and bone marrow aspiration were obtained. At 3 months of age, the infant contracted an overwhelming infection and died.
Denouement and Discussion
Wolman's disease is a lethal familial lipidosis. The disease is characterized by failure to thrive, gastrointestinal symptoms, and a protuberant abdomen secondary to hepatosplenomegaly. Our patient had all of these findings. The distinctive features of the disease are due to abnormal accumulation of visceral foam cells ladened with cholesterol and triglycerides.1,6 The cause is not known, but there is speculation that a deficiency in lysosomal