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Scheie syndrome

Definition

Scheie syndrome is an inherited disease of metabolism in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS I S.

See also:

• MPS I H (Hurler syndrome)
• MPS II, Hunter syndrome
• MPS IV Morquio syndrome
• MPS III (Sanfilippo syndrome)

Alternative Names

Mucopolysaccharidosis type I S; MPS I S

Causes, incidence, and risk factors

Persons with Scheie syndrome are missing a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.

Without the enzyme, glycosaminoglycans build up. This excess material is stored in body tissues and can damage organs, including the heart. Symptoms can range from mild to severe.

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive trait. That means that both parents must pass along the defective gene for the offspring to have the disease.

Symptoms

Symptoms may not appear until age 4 or 5, and may include:

• Broad mouth with full lips
• Claw hands and deformed feet
• Cloudy cornea and progressive loss of vision, resulting in blindness
• Coarsened facial features
• Increased body hair (hirsutism)
• Prognathism
• Stiff joints

Signs and tests

A physical exam may show signs of:

• Aortic regurgitation
• Hearing loss
• Hernias -- inguinal hernia, umbilical hernia
• Liver swelling
• Prognathism

An eye exam will show cloudy corneas and retinal pigmentation.

Urine tests will be done. Persons with Scheie syndrome have increased amounts of dermatan and heparan sulfate in their urine. See: Urine dermatan sulfate

Other tests may include:

• Blood culture
• Culture of skin fibroblasts
• Echocardiogram
• X-ray of the skeleton

Treatment

Enzyme replacement therapy for patients with a defect in the enzyme a-L-iduronidase is now possible. This includes individuals with Scheie syndrome, but also Hurler and Hurler-Scheie syndromes.

Early recognition and treatment of spinal cord compression can prevent permanent nerve damage. Treatment is also given for heart problems caused by leaky valves.

Support Groups

The National MPS Society -- www.mpssociety.org

Expectations (prognosis)

Scheie syndrome is compatible with an almost normal lifespan. However, some disabilities such as limitation of joints, blindness, or deafness are likely to occur later in life.

Complications

• Compression of the spinal cord, which can lead to loss of nerve function
• Extremity deformities
• Hearing loss and deafness
• Problems with the aortic valve
• Vision problems

Calling your health care provider

Call your health care provider if you have symptoms of this disorder.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Scheie syndrome. Counseling is also recommended for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments.