What is Sanfilippo Syndrome?

Sanfilippo Syndrome is also known as Mucopolysaccharidosis (MPS-III). Sanfilippo Syndrome according to Wikipedia is a rare disease caused by a deficiency in an enzyme needed to breakdown the glycosaminoglycan heparan sulfate.

MPS III or Sanfilippo Syndrome occurs in about 1.89 of every 100 thousand live births.Sanfilippo Syndrome usually shows up in young children. Infants that are affected seem normal, although some minor facial dysmorphism may be a noticeable trait of this rare disease. Stiff joints, hair that is course and hirsuteness are more of a condition that comes out late in the disease. The child develops normally initially, however as Sanfilippo Syndrome progresses there may issues with slow or shortened speech.

As Sanfilippo Syndrome progresses other signs may start to show such as hyperactivity, Temper Tantrums, aggressiveness and lack of sound sleep. A child with Sanfilippo Syndrome may have normal mobility and muscle strength, but more over the behavioral issues can be difficult to control. As Sanfilippo Syndrome progresses to final phases a child may become progressively more stationary and impassive, which may require a wheel chair at some point. In addition, swallowing may become more difficult for the child and they also could develop seizures. Death is usually the outcome, although a child may survive with Sanfilippo Syndrome until their mid teens or early twenties.

Clinical characters of Sanfilippo Syndrome are mainly neurological; however, development of other physical complications may occur such as diarrhea, carious teeth and an inflamed liver or spleen. There is a range of medical severity with Sanfilippo Syndrome. If it occurs later on in life it is possible that Sanfilippo Syndrome may be seen as a psychotic episode, but it is rare that this disease develops in the latter years. It may be. To confirm this diagnosis of Sanfilippo Syndrome usually tissue samples and gene assessment is done, also a prenatal analysis may be available.

Treatment for Sanfilippo Syndrome is available and most beneficial during an early diagnosis. Neonatal screening would allow for the earliest detection and diagnosis of Sanfilippo Syndrome, which could assist the patient with a more effective treatment and possible better outcome. A bone marrow transplant may be done and medication may be given to treat the behavioral issues associated with Sanfilippo Syndrome, although many patients respond poorly to prescribed pharmaceuticals. There are other several promising therapies out there, but they are still in the early development stage. When diagnosed clinically, this indicates the stage Sanfilippo Syndrome may be too advanced to treat.

In any case, see your Dr. immediatley if there are any concerns about Sanfilippo Syndrome occuring in your child. Ask your Dr. if you are pregnant to see about testing and what may put your child at risk for this syndrome. Early detection is key with this disease.

Sanfilippo, S. J.; Podosin, R.; Langer, L. O., Jr.; Good, R. A. : Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963/ http://en.wikipedia.org/wiki/Sanfilippo_syndrome/ Wikipedia