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.

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, for 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

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

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 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 of Scheie syndrome.

Page Content:

Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS