Hurler

The Hurler syndrome is the most severe form of the disease Mucopolysaccharidosis I (MPS I), and its name is a tribute to Dr. Gertrude Hurler, doctor who described, in 1919, the first patients with this disease.

• Hurler's Syndrome is due to the absence of the enzyme-L-iduronidase, which is responsible for the breakdown of mucopolysaccharides and estesacumulam in cells throughout the body. This accumulation interferes with the functioning of certain cells and organs of the body and produces a number of serious symptoms in the patient. As this accumulation intensifies signals Hunter syndrome become more visible.

• Babies with Hurler syndrome may be born large and may grow faster than normal during the first year of life. This growth may become slower at the end of the first year and stop at around three years old. Children with Hurler syndrome may have no more than 1 meter and 20 centimeters tall.

     Manifests between 6 and 8 months baby and can lead to death, around 10 years old.

• This syndrome causes the development of bone deformities, corneal changes, heart problems, abnormal facial bones, short stature and intellectual impairment.

     A child with Hurler syndrome do not have a normal motor development, requiring treatment to reach the developmental milestones such as sitting, standing and walking.

• Physical therapy and motor skills can help in treating the disease, improving the quality of life of individuals and their caregivers.

What are your symptoms:

• Cloudiness eye;

• Rib cage shaped pigeon;

• Less flexibility;

• Coughs;

• Fevers;

• Breathing problems;

• Slight cranial deformation;

• Orthopedic problems primarily in the spine.

     The historical classifications of MPS I, Hurler syndrome, Hurler-Scheie and Scheie not adequately reflect the huge variation in clinical symptoms. The manifestations seen with each classification are not mutually distinct and often overlap. Therefore, the disease is best characterized as a deficiency of α-L-iduronidase with or without CNS involvement.

     Because the clinical manifestations described in all types of MPS is important multidisciplinary, to prevent and diagnose early complications, which can be treated by improving the quality of life of patients with MPS and offering family support:

     -Clinical geneticist and neurologist;

     -Orthopedics and Radiology;

     -Physical Therapy;

     -Pneumologia/polissonografia;

     -ENT;

     -Dentistry;

     -Speech;

     -Psychology;

     -Cardiology;

     -Ophthalmology;

     -Neurosurgery;