Hurler’s disease mps austria

Mucopolysaccharidosis type I shows great clinical variability: Hurler's disease (MPS I-H) is the most severe form of progression. At the other end of the clinical spectrum is Scheie's disease (MPS I S). In between, there are all transitions with different manifestations, the Hurler/Scheie compound (MPS I H-S). However, it is very important to keep in mind that, whatever syndrome a child has, this disease can vary greatly in its effects.

At this point we want to inform you about the disease and that there are ways and means to make life as worth living as possible for your children and to manage the problems that are bound to occur. If you are interested in a more detailed description, you can find more under publications.

Appearance

Prominent features are a large head, a broad nose with a flat nasal root, flattened eye sockets with protruding eyes, thick bulging lips with large, ev. protruding tongue. Hair is stiffer than usual, eyebrows are bushier, and all body hair is thicker than normal. The ears are large. Possess long fleshy earlobes. The head has a special shape, the forehead is strongly bulging, the diameter from the forehead to the occiput is enlarged.

Children have a large abdomen due to enlargement of the liver and spleen, and umbilical and inguinal hernias occur at a very early age. The thorax is altered in the sense of a chicken or funnel chest. The body size varies with the severity of the disease process. The children often do not grow taller than 100 cm. The intelligence is limited. What has already been learned is unlearned. However, there is a wide variation in this as well. Some children can only speak a few words, while others can speak well and read a bit. It is important for parents to teach their Hurler babies as much as possible before the disease progresses. Even if the child begins to forget learned things, amazing remnants of skills remain. The children will still be able to understand and enjoy life even if they lose the ability to speak.

Problem areas nose, throat, lungs

Because the bridge of the nose is flattened and the airways behind the nose are narrower than usual, airway obstruction occurs easily. One of the less attractive features of Hurler children is the constant trickling of thick mucus from the nose, which occurs even without specific infection. The tonsils may be enlarged. Partially constrict the airway. The neck is short, the trachea is stiffened and constricted by stored material.

The shape of the rib cage is abnormal and the connection between the ribs and the sternum is not as mobile as it should be. The chest is rigid as a result and cannot move freely enough to allow the lungs to breathe in enough air. The diaphragm is also curved upward due to the enlarged liver and spleen, which further restricts the space for the lungs. The lung tie is thickened by stored material and thus stiffer.

Secretion of mucus is increased, making it even more difficult for the affected person to clear it, as MPS patients cannot take such a deep breath to cough it out properly. However, if the secretions from the lungs are not completely emptied, it means an increased risk of infections, which can lead to scarring and thus further narrowing.

Many sick children breathe very noisily, even when they do not have an infection. At night they may be restless and snore. Sometimes the child may stop breathing for a short time (sleep apnea). It is therefore important to note that many children can breathe like this for many years.

Organs

Cardiac problems are common in Hurler patients, but they don't necessarily lead to complications. In Hurler patients, the brain enlarges due to the storage of mucopolysaccharides. This leads to a disturbance of the cerebrospinal fluid circulation, so that the intracranial prere increases. A shunt may be needed to drain the fluid.

Sensory organs

Vision may be limited due to corneal clouding. Glaucoma, an unnaturally high prere in the eye, can sometimes occur and damage the ocular nerve. The retina (the light-sensitive skin in the back of the eyeball) may also be affected.

Hearing loss in children has several causes: Conductive hearing loss due to frequent infections, or sensorineural hearing loss due to mucopolysaccharide storage in the sensory cells. It is important for all children with MPS to have their hearing checked regularly and for problems to be treated as early as possible to give the child as many chances as possible to learn and communicate. The skin is thickened. Little elasticity. Sweating and cold hands or feet are common problems in Hurler children because the temperature center in the brain is damaged.

musculoskeletal system

Because the vertebral bodies are not properly formed, kyphosis often occurs, which does not actually need to be treated. All patients with MPS I suffer from hip dislocation, but treatment is not always advisable or necessary.

Stiff joints frequently occur in all forms of this disease. Mobility is limited, especially in the shoulder and elbow joints. The formation of so-called claw hands results from the stiffening of the fingers and the general thickening of the skin. The thickening of the ligaments between the carpal bones can lead to the development of carpal tunnel syndrome with loss of pain and sensation.

Many MPS I patients have bent knees and hips when standing and walking. This, together with a shortened Achilles tendon, causes them to walk on their toes. Sometimes knock knees are found, but these are not usually treated. The feet are wide and stiff with curved toes, similar to the hands. The teeth have wide spacing. Are covered with inferior enamel. It is important to take good care of the teeth, because tooth decay can cause pain. Teeth must be brushed regularly and if the water does not contain enough fluorine, give your child fluorine tablets daily.

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