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Illustrated Health Encyclopedia
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Ency. home > Disease > S > Sanfilippo syndrome

Sanfilippo syndrome   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Mucopolysaccharidosis type III (subtypes A - B - C-D); Type IIIA = heparan sulfate sulfatase deficiency; Type IIIB = N-acetylglucosaminidase deficiency; Type IIID = N-acetylglucosamine-6-sulfate sulfatase deficiency

Treatment

There is no specific treatment for Sanfilippo syndrome.  Specific complications may respond to conventional treatments as they arise. 

Prognosis

Severe retardation is the most important of the clinical problems. IQs may be below 50. Severe cases lead to death before 20 years of age. 

In a minority of cases, Sanfilippo is compatible with a normal lifespan. The affected person may develop retinal degeneration leading to blindness, or may have seizures.

Complications

  • Blindness
  • Seizures
  • Mental retardation
  • Progressive neurologic disease leading to becoming wheelchair bound
  • Inability to care for self

Call Your Health Care Provider If:

Call your health care provider if your child does not seem to be growing or developing normally.

Call for an appointment with your health care provider if you plan to have children and you have a family history of Sanfilippo syndrome.

Ency. home > Disease > S > Sanfilippo syndrome

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