Sanfilippo syndrome

Sanfilippo syndrome (pronunciation: san-fil-EE-po sin-drome), also known as Mucopolysaccharidosis III (MPS III), is a rare and progressive genetic disorder that primarily affects the central nervous system. The syndrome is named after the Italian pediatrician, Dr. Sylvester Sanfilippo, who first described the condition in 1963.

Etymology

The term "Sanfilippo syndrome" is derived from the name of the Italian pediatrician, Dr. Sylvester Sanfilippo. The term "mucopolysaccharidosis" is derived from the type of molecule that accumulates in the body due to the disorder. "Mucopolysaccharides" are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints.

Symptoms

The symptoms of Sanfilippo syndrome usually become noticeable between 2 and 6 years of age. They may include developmental delay, severe behavioral problems, and progressive intellectual disability. Other symptoms may include sleep disturbances, hearing loss, and vision problems.

Causes

Sanfilippo syndrome is caused by a mutation in one of four genes: SGSH, NAGLU, HGSNAT, or GNS. These genes provide instructions for making enzymes that help break down certain sugar molecules. When one of these genes is mutated, the corresponding enzyme is either missing or not working properly, leading to the buildup of sugar molecules in the cells.

Diagnosis

Diagnosis of Sanfilippo syndrome is based on a clinical examination, followed by enzyme tests and genetic testing. The enzyme tests can determine if there is a deficiency in one of the four enzymes associated with the syndrome. Genetic testing can confirm the diagnosis and identify the specific type of Sanfilippo syndrome.

Treatment

There is currently no cure for Sanfilippo syndrome. Treatment is supportive and focuses on managing the symptoms. This may include physical therapy, speech therapy, and occupational therapy. Medications may be used to manage behavior problems and sleep disturbances.

Prognosis

The prognosis for individuals with Sanfilippo syndrome is generally poor. Most individuals with the syndrome live into adolescence or early adulthood.

External links

Medical encyclopedia article on Sanfilippo syndrome
Wikipedia's article - Sanfilippo syndrome

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Sanfilippo syndrome