Mucopolysaccharidosis type IS

Alternative names

Mucopolysaccharidosis type I; 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, 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