Childhood illnesses

Sanfilippo Syndrome in children

Sanfilippo Syndrome in children

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If we are concerned about the most frequent health problems of children we must also pay attention to all those so-called rare diseases that affect a good number of children. He Sanfilippo syndrome it is one of those rare diseases that should be known.

The objective of taking rare diseases more into account is to contribute to giving them visibility and for society to consider them as a real problem, families that they have to live with this disease without sufficient help from medical services.

In We explain what Sanfilippo Syndrome in children consists of.

Together we can promote research in the field of diseases that affect children and that still do not have the studies or the necessary means to improve the quality of life of the little ones. This is the case of Sanfilippo Syndrome, a lysosomal disease that affects one child in 50,000.

Sanfilippo Syndrome is a hereditary disease, it is produced by a genetic failure that affects the functioning of the enzymes responsible for breaking down substances that the body does not need. The consequences of this enzymatic failure focus on a mental deterioration which usually culminates with a early death in adolescence.

Sanfilippo disease is difficult to diagnose because its symptoms can be mistaken for a attention deficit disorder with hyperactivity or because the learning difficulties are not given due attention.

Between the symptoms of Sanfilippo Syndrome are:

- Some aggressive behavior and sudden mood swings.

- Hyperactivity and learning difficulties.

- Sleep disorders, from insomnia to talking in sleep.

- Physical problems like diarrhea or recurrent respiratory infections.

- Minor psychomotor development, so they take time to learn to walk and falls are frequent.

- Lips and eyebrows thicker than usual.

Sanfilippo Syndrome is diagnosed among the 2 and 6 years of age, depending on the importance that parents and pediatricians give to the delays in the child's development because, up to a certain point, they can be considered normal. There is no specific treatment for this disease, but the care that tries to improve the quality of life of the child with Sanfilippo Syndrome must be constant.

Because it is a hereditary disease, Sanfilippo Syndrome can be avoided with a genetic diagnosis before pregnancy, but logically before there must be a suspicion of risk of transmitting this syndrome. And during pregnancy, tests such as amniocentesis or chorionic biopsy can detect the disease in the first weeks of gestation.

You can read more articles similar to Sanfilippo Syndrome in children, in the category of Children's Diseases on site

Video: Anyas Story so far.. My sister Anya with MPS III B Sanfilippo Syndrome (June 2022).


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