What are the Symptoms of Hurler Syndrome and How Can It Be Treated?

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Hurler Syndrome is a rare, inherited disease of the metabolism. Children with this disease cannot break down long chains of sugar molecules called glycosaminoglycans.

Hurler Syndrome Symptoms

  • A baby with this condition may be quite large at birth and appear normal, but may have an inguinal hernia (in the groin), or his or her umbilical cord may pass through the abdomen.
  • By the end of the first year, developmental delays are evident.
  • A baby with Hurler Syndrome may initially grow taller faster than normal, and then begins to slow before the end of the first year and often ends around age 3. Usually, a baby with this condition stops developing between ages 2 and 4.
  • Language may be limited due to hearing loss.
  • Tongue may be enlarged.
  • The clear layers of the cornea become clouded and retinas may begin to degenerate.
  • Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.
  • Many children develop a short body trunk and a maximum stature of less than 4 feet.
  • Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year.
  • By age 2, the ribs have widened and are oar-shaped. The liver, spleen and heart are often enlarged.
  • A child may experience noisy breathing and recurring upper respiratory tract and ear infections.
  • Feeding may be difficult for some children, and many experience periodic bowel problems.

What is the cause of Hurler Syndrome?

Hurler Syndrome is an inherited disorder.

How is Hurler Syndrome diagnosed?

Amniocentesis and chorionic villus sampling can indicate if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.

Diagnosis often can be made through clinical examination of your baby and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis.

Treatment of Hurlers Syndrome

Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain.
Other treatment options include bone marrow transplantation and umbilical cord blood transplantation. These two treatments can successfully cure the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, can be improved, and neurologic degeneration can often be halted.