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What Is Sanfilippo Syndrome?

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  • Written By: Tricia Ellis-Christensen
  • Edited By: O. Wallace
  • Last Modified Date: 02 November 2014
  • Copyright Protected:
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Sanfilippo syndrome is also known by the name mucopolysaccharidoses III or MPS III. It is degenerative disorder caused by the body’s inability to break down certain sugar molecule chains called mucopolysaccharides. The illness tends to cause fatality before the age of 20, though there are a few exceptions, and is presently not curable. Diagnosis tends to occur in the first few years of life when a child doesn’t develop as would be expected, or begins to have losses in any developmental achievement.

Usually Sanfilippo syndrome is identified as an inherited disorder. Parents of the child with this condition will not have it, but they will each possess a recessive gene for it, which is passed down to a child. This is called an autosomal recessive inheritance pattern. If a person knows of anyone in the family who had or has this condition, including aunts, uncles or cousins, getting tested with a partner is a good idea prior to conception. Both parents need to have the gene in order for it to be expressed, but if even one partner has it, this should be noted so the next generation of kids are aware they may carry the recessive gene.

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There is generally no way for parents to tell when an infant is born that Sanfilippo syndrome is present, unless it is highly suspect and genetic testing is performed. Some children with this illness have a larger than normal head, but many appear to be fully well. After the first year of life, certain symptoms can become more evident, and these include failure to make developmental gains, chronic diarrhea, and agitation or poor behavior that worsens. Some children with this condition also have joint problems or stiffness in the legs and others may have seizures, develop confusion or dementia, and be prone to respiratory infections.

In some children, there are characteristic appearance markers that might suggest the disease including a larger head. Those with this condition have thicker lips, more adult looking facial features, and a heavy eyebrow that may be thick and meet the middle. Hair may also be coarser or more profuse in growth than would be normally expected in a young child.

The degree to which Sanfilippo syndrome progresses may be determined by type. There are four types of the illness, labeled A through D. Each one represents lack of a specific enzyme that makes it difficult to break down long chain sugars. Type could in part determine outcome. Type A is often considered the most severe and most common.

While there is no cure for Sanfilippo syndrome, support from therapists, physical therapists, occupational therapists and involvement by doctors can be vital. Medical treatment can help palliate some conditions though it cannot fully alter the course of the disease. Caregivers will need support, and other children in the family who do not have the condition may benefit from support and counseling, since behavior issues of the affected child may be problematic for a whole family and the surety of losing a sibling is emotionally weighty.

Of course, the best possible treatment would be a way to cure the illness, and as yet this remains elusive. Unfortunately this can mean a short life for many of the children diagnosed with this disease. With new treatments in gene and stem cell therapy developing it is the sincere wish that someday Sanfilippo syndrome will become a treatable condition.

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