Definition and Hurlers Syndrome Pictures
Definition Hurlers Syndrome
Before looking some hurlers syndrome pictures, knowing definiton of this disease is better. Hurler syndrome a multisystem disorder of early childhood. The most important manifestation is developmental retardation, which is evident until the end of the first year of life, followed by increasing cognitive and sensory degradation. The systemic manifestations are as follows:
- Facial Dysmorphies: Coarsening of the facial features, which are usually visible with 3 to 6 months. A big mouth with widened lips, big head, balcony head and flat nasal ridges fall on.
- Eyes: Diffuse corneal changes lead to corneal opacity during the first years of life. Degeneration of the retina is also frequent.
- Participation of internal organs: Progressive hepatosplenomegaly occurs, but there is no organic function disorder. Hernias and umbilical hernias can also occur either at birth or they develop later.
- Skeletal abnormalities: Skeletal abnormalities include widening of the ribs and other bony deformities. They are clinically evident at the age of 10 to 14 months. In patients with severe disease, thoracic-lumbar kyphosis may also be present. There may also be deformation of the pelvis, femur and clavicle. Patients with Hurler’s syndrome are usually short-lived.
- Cardiovascular abnormalities: cardiomyopathy with valve disorders and frequent infections of the upper and lower respiratory tract occur. Enlarged tonsils and adenoids cause respiratory obstruction. In addition, there is often a hearing impairment hearing loss.
Hurlers Syndrome Diagnostics
Hurler syndrome is a genetic disorder that can be diagnosed either in the prenatal phase or after childbirth. A number of lab tests and radiological examinations are helpful to confirm the diagnosis of the disease.
- Laboratory investigations: Investigation of lymphocytes in the blood smear for abnormal cytoplasmic inclusions as well as enzyme levels of alpha-L-iduronidase in cultured fibroblasts and leukocytes should be carried out. Detection of increased excretion of dermatin sulfate and heparin sulfate in the urine is also necessary.
- Prenatal diagnostics: Prenatal diagnostics are possible by measuring the enzyme levels.
- Imaging: X-ray images of the skeleton show deformities of the lower spine and characteristic dysostosis of the bones. Echocardiography is important for the examination of heart valve abnormalities.
Here are Some Hurlers Syndrome Pictures
Mucopolysaccharidosis type 1 (MPS-I) is a very rare, severe, congenital lysosomal storage disease. It is based on a genetic defect which leads to a deficiency of a certain protein, a so-called enzyme (name: α-L-iduronidase) in certain areas of the cell called lysosomes. Due to this lack of enzyme, certain metabolic products can no longer be degraded in the lysosomes, so that they accumulate there (therefore lysosomal storage disease) and disrupt the cell function.
The stored metabolic products are certain so-called glycosaminoglycans (often abbreviated as GAG). These are made up of modified sugar molecules and were also referred to as mucopolysaccharides (also derived from the disease name mucopolysaccharidosis). Glycosaminoglycans are involved in the assembly of supporting and connective tissue (e.g., cartilage, bone, vessel walls, respiratory tract, cornea, skin or joint fluid) throughout the body. On the cell, tissue and organs level, this ultimately leads to malfunctions and damage. Therefore, it is not surprising that the accumulation of glycosaminoglycans occurring in MPS I can lead to disease signs in almost all organs and tissues (terminology: symptoms). This is why MPS-I is often referred to as a multi-system disease. The disease MPS I progresses steadily and can then lead to different impairments.
As we now know, all patients with MPS I have a deficiency of the same enzyme, the α-L-iduronidase. Nevertheless the courses are different. The course is characterized by the fact that Hurler’s disease (sometimes Pfaundler-Hurler’s disease or Hurler-Pfaundler’s disease) is the most severe form of mucopolysaccharidosis type I.
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