Definition:
Wolman disease otherwise known as the Wolman's syndrome or acid lipase deficiency is a rare disorder that is a neonates and usually results to death of the infant within the first year of life. It was first observed in 1956 by Moshe Wolman, an Israeli neuropathologist (A. Abramov, S. Schorr and M. Wolman, Generalized xanthomatosis with calcified adrenals, Am J Dis Child 91 (1956), pp. 282–286).
Diagnosis:
Diagnosis to confirm Wolman Disease is made through the use of the Acid lipase enzyme estimation.
Treatment:
There is no specific treatment for the Wolman Disease though treatments may focus more on the symptoms as they manifest. In some cases blood transfusion are requires especially those that have anemia while removal of the enlarged spleen are advised.
Symptoms and Signs:
The symptoms of the Wolman disease includes progressive mental deterioration, enlargement of the liver and enlargement of the spleen, distended abdomen and steatorrhea or the excessive amounts of fats in the stool, anemia, vomiting and hardening of the adrenal glands due to excessive calcium deposits.
Causes:
It is an inherited disorder that is marked by accumulation of the cholesteryl esters which are normally used for the transport of cholesterol and triglycerides.
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