Sanfilippo syndrome
Alternate Names : MPS III
Symptoms & Signs
Unlike other forms of MPS, symptoms appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during the first few years, but final height is below average. Delayed development is followed by deteriorating mental status.
Other symptoms include: - Behavioral problems
- Coarse facial features
- Diarrhea
- Full lips
- Heavy eyebrows that meet in the middle of the face above the nose
- Sleep difficulties
- Stiff joints that may not extend fully
- Walking problems
Diagnosis & Tests
A physical exam may show signs of liver and spleen swelling. An eye exam will show clear corneas, unlike the cloudy corneas seen in persons with Hurler syndrome (MPS I H). Neurological testing will reveal signs of seizures and mental retardation. Urine tests will be done. Persons with Sanfilippo syndrome have large amounts of a mucopolysaccharide called heparan sulfate in the urine. Other tests may include:
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