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A nine-year-old girl was admitted to the hospital because of hepatosplenomegaly and pain in the thigh.
The patient had been well until three years earlier, when she began to have frequent episodes of epistaxis. Two years before admission, mild abdominal distention developed. Periodic examinations by her physician were reported to have revealed no abnormalities. Two months before admission, the abdominal distention worsened but was not accompanied by abdominal pain. Physical examination revealed hepatosplenomegaly. An abdominal ultrasonographic study confirmed the presence of hepatosplenomegaly, without evidence of portal-vein thrombosis (Figure 1). The results of liver-function tests were normal or nearly
Differential Diagnosis
Anatomical Abnormalities, Congestion, and Infection
Hematologic Diseases
Infiltrative Processes
Malignant Neoplasms
Histiocytic Disorders
Gaucher's Disease
Clinical Diagnosis
Dr. Eric C. Larsen's Diagnosis
Pathological Discussion
Anatomical Diagnosis
Source Information
From the Division of Pediatric Hematology/Oncology, Dartmouth Hitchcock Medical Center, and the Department of Pediatrics, Dartmouth Medical School, Lebanon, N.H. (E.C.L.); and the Departments of Radiology (S.A.C.) and Pathology (A.E.R.), Massachusetts General Hospital and Harvard Medical School, Boston.
Related Letters:
Case 20-2003: Gaucher's Disease
Beutler E., Sims K., Ebb D.
Extract |
Full Text |
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N Engl J Med 2004;
350:416-417, Jan 22, 2004.
Correspondence
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