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:
- Blood culture
- Echocardiogram
- Slit lamp eye exam
- Skin fibroblast culture
- X-rays of the bones
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Sanfilippo syndrome : Overview, Causes, & Risk Factors
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Sanfilippo syndrome : Symptoms & Signs, Diagnosis & Tests
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Sanfilippo syndrome : Treatment
Review Date : 5/11/2009
Reviewed By : Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the American Board of Genetic Counseling, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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