Sanfilippo syndrome, Mucopolysaccharidosis type III, or MPS III, is a genetic disorder.  Sanfilippo syndrome is a condition that affects the central nervous system, specifically the brain and spinal cord.  Over time the neurofunction of the brain and spinal cord start to deteriorate.  It may take some time before this condition is diagnosed. 

Since it is a genetic disorder it is present at birth though symptoms can be hard to notice right away.  Sanfilippo syndrome is rare, only affecting 1 in 70,000 babies.  The risk of having this genetic disorder is if other family members have had it, or you have had another baby that had this genetic disorder.  There is no cure and depending on the type and severity life expectancy for children born with this disorder is between ages ten and twenty.  

Sanfilippo syndrome is a genetic metabolism disorder.  There are chains of sugar molecules in your body that help build cartilage, connective tissue, nerve tissue, and skin.  They can also help your blood clot and are used in the communication between cells.  When someone suffers from Sanfilippo syndrome the gene that produces a certain enzyme to help break down these sugar molecules doesn’t exist.  Which causes a buildup of the sugar molecules in the body.  This usually happens with the heparan sulfate which builds up in the cells and stops proper function, organ damage, mental and growth disorders, and behavioral problems.  

There are 4 subtypes of Sanfilippo syndrome.  The subtypes are Type A, B, C, and D.  Type A is the most common and the most severe.  Type B is the second most common, but can progress slower depending on the severity.  Types C and D are less common and are the slowest in progression.  

 

Symptoms

Symptoms usually aren’t noticed until 1-6 years of age.  Symptoms can include behavioral issues, speech and development delays.  Hyperactivity can also be a symptom. Persistent diarrhea especially in older children.  Frequent infections especially in the ear and throat.  The child may have difficulty sleeping.  Difficulty with communication and social skills.  Developmental regressions can occur such as progressive loss of motor skills, walking, feeding, and speaking.  Seizures can occur.  Movement disorders can also be a symptom.  Enlarged head and tongue.  Umbilical hernias, arthritis, hearing loss, vision impairment, and enlarged liver or spleen.  

 

Diagnosis

Sanfilippo syndrome can be misdiagnosed.  Usually for autism or ADHD, since the first signs are usually behavioral problems, and hyperactivity.  The next sign that occurs is speech and developmental delays that get worse.  Diagnosis usually happens between the ages of 1-6 because a child is not hitting developmental milestones, or starts regressing.  The first thing your doctor will most likely do is take a urine test of your child.  This can help check the heptane sulfate levels.  If the levels are too high they will then proceed with a blood test that can check for the missing enzyme.  If they want to confirm even further genetic testing can be done to determine if there is a missing gene.  

 

Treatment

There is no cure.  Treatment is to help give the best quality of life for the child.  The life expectancy of a child with Sanfilippo syndrome is from ten to twenty years of age, depending on the progression and the type.  Severity varies from patient to patient, and so does how fast the condition progresses.  Treatment is done usually through a team of specialists to help manage symptoms.  Early treatment can help alleviate some of the worst symptoms, or start fighting them before they get too terrible.  There are some options with enzyme replacement therapy.  Where an injection of the missing enzyme is given to the child which allows their body to metabolize the heparan sulfate until another injection is needed.  Another option could be gene therapy.  This is done by replacing the missing gene.  Allowing the body to metabolize the heparan sulfate. 

 

Takeaway

There is no way to prevent Sanfilippo syndrome.  You can check your family history to see if you would be at a higher risk of passing the condition to your child.  This condition causes the neurofunction in the brain and spine to deteriorate over time.  The most common symptoms are behavioral problems, developmental issues, and loss of mobility.  There is no cure for this condition though there are many clinical trials being done in hopes to come up with a cure.  It does shorten your child’s life expectancy to between 10-20 years.  Sanfilippo syndrome is a genetic condition that is very rare.  

 

 


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