Sanfilippo Syndrome in children
If we worry 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. The Sanfilippo syndrome is one of those rare diseases that should be known. The objective in taking into account rare diseases is to
If we worry 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. The Sanfilippo syndrome is one of those rare diseases that should be known.
The objective in taking into account rare diseases is to contribute to giving them visibility and that society considers them as a real problem, of families that have to live with this disease without sufficient help from medical services.
In Guiainfantil.com we explain what is Sanfilippo Syndrome in children.
What is the Sanfilippo disease
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 children. 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 caused by a genetic failure that affects the functioning of the enzymes responsible for breaking down the substances that the body does not need. The consequences of this enzymatic failure center on a mental deterioration that usually culminates with premature death in adolescence.
Symptoms of Sanfilippo disease in children
Sanfilippo disease is difficult to diagnose because its symptoms can be confused with attention deficit disorder with hyperactivity or due attention to learning difficulties .
Among the symptoms of Sanfilippo Syndrome are:
- Certain aggressive behavior and sudden mood swings.
- Hyperactivity and learning difficulties.
- Sleep disorders, from insomnia to talking asleep.
- Physical problems such as diarrhea or recurrent respiratory infections.
- Lesser psychomotor development, so they take time to learn to walk and falls are frequent.
- Lips and eyebrows thicker than usual.
Treatment of Sanfilippo Syndrome in childhood
Sanfilippo Syndrome is diagnosed between 2 and 6 years of age, depending on the importance that parents and paediatricians give to delays in the child's development because, until a certain moment 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.
Being a hereditary disease, Sanfilippo Syndrome can be avoided with a genetic diagnosis before pregnancy, but logically there must be a suspicion of risk of transmitting this syndrome. And during pregnancy, tests such as amniocentesis or corial biopsy can detect the disease in the first weeks of pregnancy.
Laura Vélez. Editor of Guiainfantil.com
