Sanfilippo syndrome

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• Family history of Sanfilippo syndrome
• May have normal growth during first few years, but final height is below average
• Delayed development followed by deteriorating mental status
• Deterioration of gait
• 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

• Hepatomegaly (liver enlargement)
• Spleen enlargement
• Clear corneas
• Echocardiogram may show thickened heart
• Abnormal bone x-rays, such as thickened skull and oval vertebrae
• Seizures, mental retardation
• Activities of one of the enzymes (listed above in "Alternative Names") may be low in fibroblast skin cells
• Urine may have increased heparan sulfate
• Abnormal, pathological staining character of white blood cells called metachromasia

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.