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Case 2
Presented by: K. Deraedt, K. Geboes, Belgium
Clinical History
A 32-year-old male presented with fatigue, watery diarrhoea and diffuse sweating. The complaints started after a journey to the Philippines. Nausea and melaena were absent. Further questioning revealed that the patient had suffered from the same kind of diarrhoea during the previous 5 years. Except for a painful inguinal lymph node, there were no abnormalities on clinical examination. Stool examination was negative. Colonoscopy showed numerous white, smooth mucosal nodules in the colon and the rectum.
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LYSOSOMAL STORAGE DISEASE
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On base of clinical features, histochemical stains and electron microscopy, a lysosomal storage disease is suspected. Although no measurement of the hepatic acid lipase activity has been performed, we believe that our case is suspicious of cholesteryl ester storage disease.
Cholesteryl ester storage disease is a sphingolipidosis caused by lysosomal acid cholesteryl ester hydrolase, or acid lipase, deficiency manifesting as hyperlipidemia and hepatomegaly. This is an autosomal recessive disorder that results in accumulation of cholesteryl esters and triglycerides, mainly in lysosomes of histiocytes, resulting in foam cells, in the liver, spleen, lymph nodes, and other tissues.
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SS6, Case 2 |
24.8.2007 |
süha göksel |
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28.12.2007 |
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