Scheie syndrome

Definition:

Scheie syndrome is one of a number of heritable mucopolysaccharide storage diseases and is characterized by the absence of the enzyme a-L-iduronidase and the excretion of increased levels of dermatan and heparan sulfate in the urine.

Alternative Names:

Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS

Causes, incidence, and risk factors:

Scheie syndrome is transmitted as an autosomal recessive trait. Scheie syndrome exhibits the same enzyme defect as Hurler syndrome but is usually milder. It is the mildest form of mucopolysaccharide storage disease. Symptoms may not appear until 4 or 5 years of age. Normal mentality is maintained. Clinical features are joint limitations, inguinal hernias, a broad mouth with full lips, and clouding of the cornea that occurs early. Affected children also develop juvenile onset of stiff joints, with development of claw hands and deformed feet. As in Morquio syndrome, affected people may develop problems with the aortic valve.

Symptoms:

a family history of Scheie syndrome
coarsened facial features
stiffness or limitation of motion in some joints, example "claw hands"
increased body hair (hirsutism)
broad mouth with full lips
cloudy cornea and progressive loss of vision resulting in blindness
prognathism
normal intelligence, stature and life span

Signs and tests:

inguinal hernia
umbilical hernia
hepatomegaly
prognathism
corneal clouding
retinal pigmentation
hearing loss
aortic regurgitation
blindness

Tests

X-ray of the skeleton
echocardiogram may show thickened and narrowed or leaky aortic valve
urine dermatan sulfate may be increased
culture - skin fibroblasts (or white blood cells) for enzyme assay of alpha-L-iduronidase activity

Treatment:

There is no specific treatment for Scheie syndrome. Ongoing research into enzyme replacement therapy may offer treatment in the future. Early recognition and treatment of spinal cord compression can prevent permanent nerve damage. Treatment for heart problems caused by leaky valves is the same as in mainstream medicine.

Support Groups:

National MPS Society, Inc.
102 Aspen Dr
Downingtown, PA 19335
Phone: 610-942-0100
Website: http://www.mpssociety.orghttp://www.mpssociety.org
E-mail : mailto:info@mpssociety.orginfo@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 in later decades.

Complications:

visual impairment from corneal clouding
hearing loss and deafness
extremity deformities
compression of the spinal cord can lead to loss of nerve function

Calling your health care provider:

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 os Scheie syndrome.

Review Date: 11/12/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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