Wolman Disease - Symptoms

Symptoms

The signs and symptoms of Wolman disease usually appear shortly after birth, typically in the first few weeks of life. Affected infants may have the following:

• Feeding difficulties with frequent vomiting
• Diarrhea (loose frequent stools)
• Swelling of the abdomen (abdominal distention)
• Enlargement of the liver (hepatomegaly) and spleen (splenomegaly)
• Failure to gain weight or sometimes weight loss

The accumulation of fat in the walls of the gut in Wolman disease leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food. The malabsorption associated with Wolman disease is often accompanied by persistent and often forceful vomiting, frequent diarrhea, foul-smelling and fatty stools (steatorrhea). Because of these digestive complications, affected infants usually fail to grow and gain weight at the expected rate for their age (failure to thrive).
As the disease progresses, increasing fat accumulation in the liver leads to other complications including yellowing of the skin and whites of the eyes (jaundice), and a persistent low-grade fever.

A distinct finding associated with Wolman disease is the accumulation of chalky material (calcification) in the adrenal gland.

• The adrenal glands are located on top of the kidneys and produce hormones (chemicals that help regulate various functions in the body).
• Calcification of the adrenal glands is not detectable by physical examination, but can be seen with an X-ray, CT scan or other imaging investigations. This finding is very useful in helping make a diagnosis as there are very few other conditions that cause vomiting, failure to gain weight and adrenal calcification. Not all cases of Wolman disease show this finding and diagnosis in these cases is more difficult and often delayed. Calcification may prevent the adrenal glands from producing enough essential hormones and can affect metabolism, blood pressure, the immune system and other vital processes of the body. It has not been definitely established in Wolman disease that the adrenal calcification causes abnormalities in adrenal function.

The complications of Wolman disease progress over time, eventually leading to life-threatening problems such as extremely low levels of circulating red blood cells (severe anemia), liver dysfunction or failure, and physical wasting (cachexia). Very few infants with Wolman disease survive beyond the first year of life.