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Sanfilippo syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

MPS III

Symptoms:

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

Signs 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

• Review Date: 7/1/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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