Sanfilippo syndrome pictures

What is Sanfilippo syndrome?

It is a disorder caused by a defect in a single gene. It is an inherited condition in which the body does not have the ability to properly break down mucopolysaccharides or glycosaminoglycans (long chains of sugar molecules).

It belongs to the group of a disease called mucopolysaccharidoses (MPS) or MPS III. Sanfilippo syndrome is also classified as Lysosomal Storage Disease (LSD). ^{(1, 2, and 3)}

picture 1: A child with Sanfilippo syndrome. He has thick bushy eyebrows and coarse thick hair.

image source: teamsanfilippo.org

picture 2: The child has thick and full lips, which are clinical manifestations of Sanfilippo syndrome.

photo source: vector.childrenshospital.org

picture 3: An adult living with Sanfilippo syndrome.

image source: static1.squarespace.com

picture 4: A girl with an obvious clinical manifestations of Sanfilippo syndrome.

photo source: abbygracefoundation.org

Clinical features of Sanfilippo Syndrome

• The child has a large head circumference and a prominent forehead.
• The child has bushy eyebrows and coarse thick hair. ⁽⁴⁾
• The skin is thick and the lips are full.
• The child has a full round bellies
• The child has low thick ears and a low nasal bridge. ⁽³⁾

picture 5: A clinician seeking to find cure for Sanfilippo syndrome.

image source: static1.squarespace.com

picture 6: An image showing family support in a patient with Sanfilippo syndrome.

photo source: i.dailymail.co.uk

Types of Sanfilippo syndrome

• Type A
• Type B
• Type C
• Type D ⁽⁴⁾

Sanfilippo syndrome is an insidious disease. It goes on undetected for years. In fact, many children are born with no obvious signs that something is wrong. It is only until the child reaches the preschool age when he/she starts to show delays.

To accurately diagnose Sanfilippo syndrome, a focused and specialized testing should be done. ^{(3, 5, and 6)}

Sanfilippo syndrome stages

Sanfilippo syndrome symptoms vary depending on the stages of the condition. They are the following:

• The first stage

The child has delayed speech and mild facial abnormalities. At this stage, the child is misdiagnosed with autism. On the first stage of Sanfilippo syndrome, the child will have a frequent sinus infection, chronic diarrhea, and ear infection. The enamel is weak, which leads to cavities and chipped teeth. There are also minor bone deformities such as flared ribs and raised sternum.

• Second stage

The child’s behavior changes. He/she becomes overly active, which diagnosed as ADHD (attention deficit hyperactivity disorder). Some kids are diagnosed with an extreme oppositional defiant disorder. The child is restless, portrays difficult behavior, and has trouble sleeping. The child tends to chew on things and scream for no apparent reason at all.

The child will also have laughing fits. Some children will have a problem with hearing and vision. Others have seizure disorders. If not managed well, the child’s condition will get worst. There will be cognitive regression and loss of motor skills.

• The third stage

In this stage, the condition will take its ultimate toll. The child can no longer walk and talk. He can’t even eat on his own. Death is possible. The patient is also prone to infections such as pneumonia. People with Sanfilippo syndrome usually have a poor quality of life. ^{(2, 4, 7, and 8)}

Life expectancy of Sanfilippo syndrome

People with Sanfilippo syndrome can live for 10 to 20 years. ⁽¹⁾

Sanfilippo syndrome cure

There is no exact cure for Sanfilippo syndrome. What could only be done is to improve the quality of life. The patient needs life-long help. The patient needs the support of their immediate family members and health care professionals such as doctors, occupational therapists, and physical therapists. ^{(2, 4, and 5)}

References

1. http://www.nytimes.com/health/guides/disease/sanfilippo-syndrome/overview.html#Treatment
2. https://curesff.org/about-sanfilippo/
3. https://rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii/
4. https://raremark.com/sanfilippo-syndrome-mps-iii/articles/what-is-sanfilippo-syndrome-mps-iii–89
5. https://www.disabled-world.com/disability/types/sanfilippo-syndrome.php
6. http://www.mpssociety.org.au/sanfilippo-syndrome
7. http://www.socialstyrelsen.se/rarediseases/sanfilipposyndrome
8. https://abbygracefoundation.org/about-sanfilippo-syndrome/