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:
Alternative Names
Mucopolysaccharidosis type I S; MPS I S
Causes
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 and 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 syndrome is transmitted as an autosomal recessive
trait.
Symptoms
Symptoms may not appear until age 4 or 5, and may include:
- Coarsened facial features
- Increased body hair (hirsutism
)
- Broad mouth with full lips
-
Cloudy cornea
and progressive loss of vision, resulting in blindness
-
Prognathism
- Stiff joints
- Claw hands and deformed feet
Exams and Tests
A physical exam may show signs of:
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:
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
Outlook (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.
Possible Complications
- Vision problems
-
Hearing loss
and deafness
- Extremity deformities
- Compression of the spinal cord, which can lead to loss of nerve function
- Problems with the aortic valve
When to Contact a Medical Professional
Call your health care provider if you have a family history of this disease or if you have symptoms suggestive of this disorder.
Prevention
Genetic counseling
is recommended for prospective parents with a family history of Scheie syndrome.
