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Ency. home > Disease > S > Sanfilippo syndrome

Sanfilippo syndrome   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Mucopolysaccharidosis type III (subtypes A - B - C-D); Type IIIA = heparan sulfate sulfatase deficiency; Type IIIB = N-acetylglucosaminidase deficiency; Type IIID = N-acetylglucosamine-6-sulfate sulfatase deficiency

Symptoms

  • 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

Signs and Tests

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

Ency. home > Disease > S > Sanfilippo syndrome

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