MedlinePlus Medical Encyclopedia: Scheie syndrome

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Scheie syndrome

Contents of this page:
Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests Treatment	Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Alternative names

Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS

Definition Return to top

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.

Causes, incidence, and risk factors Return to top

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 Return to top

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 Return to top

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 Return to top

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.)

One study examined the effects of this intravenous enzyme replacement in a group of individuals with Hurler syndrome and Scheie syndrome. Many positive benefits were seen, including improved joint mobility, growth (in children) and heart function. Few side effects were reported and the patients tolerated the medication well. How the enzyme replacement affects long-term neurologic function or life-span is still unknown.

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 Return to top

The National MPS Society
45 Packard Drive
Bangor, ME 04401
207-947-1445
www.mpssociety.org

Expectations (prognosis) Return to top

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 Return to top

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 Return to top

Call your health care provider if you have a family history of this disease or if you have symptoms suggestive of this disorder.

Prevention Return to top

Genetic counseling is recommended for prospective parents with a family history os Scheie syndrome.

Update Date: 8/27/2003

Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.