Sanfilippo syndrome
Alternative Names
MPS IIISymptoms
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 first few years, but final height is below average. Delayed development is followed by deteriorating mental status.
Other symptoms include:
- Walking problems
- Coarse facial features
- Full lips
- Heavy eyebrows that meet in the middle of the face above the nose
- Diarrhea
- Stiff joints that may not extend fully
Exams and 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:
- Blood culture
- Echocardiogram
- Slit lamp eye exam
- Skin fibroblast culture
- X-rays of the bones
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