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. |
- 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.
- Schieken RM, Kerber RE, Ionasescu VV, Ze llweger H. Cardiac manifestations of the
mucopolysaccharidoses. Circulation. 1975;52:700-705.
- Sjogren P, Pederson T, Steinmetz H. Mucopolysaccharidoses and anaesthetic risks. Acta
Anaesthesiol Scand. 1987;31:214-218. Review.
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