Authors: Randolph P. Matthews, MD, PhD; Barbara A. Haber, MD; Petar Mamula, MDSeries Editors: David A. Piccoli, MD; Petar Mamula, MD


May 03, 2004


This case demonstrates the importance of a thorough evaluation for hepatosplenomegaly. Although hepatosplenomegaly in a child may be caused by an infection, it is important to consider infiltrative process, metabolic, or storage diseases. Marked hepatosplenomegaly, such as presented here, is not characteristic of Lyme disease and is more frequently seen in an infiltrative process, such as leukemia or lymphoma, or in a storage disease. Most storage diseases resulting in hepatosplenomegaly usually present in some other fashion by the age of 5 years; such children typically have developmental delay secondary to deposition in the central nervous system, or hypoglycemia in the case of glycogen storage disease. Neurologically normal children with hepatosplenomegaly secondary to a storage disease probably have cholesterol ester storage disease or Niemann-Pick type A disease, a less common disorder that also affects the lungs. This patient's hepatosplenomegaly resolved with cholesterol-lowering agents.


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