Abdomen

Accumulation of GAG may lead to hepatomegaly and in some cases splenomegaly, with subsequent abdominal protrusion. Hepatomegaly is often apparent by the age of 6 years, and sometimes much earlier. Sequelae of hepatomegaly include restricted breathing, interference with eating, and protruding abdomen. Impaired liver function, however, is uncommon. In addition, despite splenomegaly, hematological function of the spleen is usually not affected.^1-3

In addition, inguinal and umbilical hernias are common.¹

		Umbilical Hernia With Abdominal Protrusion. Seen in a 5-year-old male with rapidly advancing MPS VI. Umbilical or inguinal hernias are occasionally seen at birth in MPS VI patients.
Photo courtesy of The National MPS Society, Inc.

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw- Hill; 2001:3421-3452.
2. Schieken RM, Kerber RE, Ionasescu VV, Ze llweger H. Cardiac manifestations of the mucopolysaccharidoses. Circulation. 1975;52:700-705.
3. Sjogren P, Pederson T, Steinmetz H. Mucopolysaccharidoses and anaesthetic risks. Acta Anaesthesiol Scand. 1987;31:214-218. Review.