Lobstein syndrome

Lobstein syndrome

Description Lobsteinova syndrome

To name translates Osteogenesis imperfecta imperfect bone development. It is a genetic disorder caused by mutations in the gene for an important protein of the human skeleton, skin, cartilage, muscles packaging, sclera, cornea and meninges – collagen.

Human collagen in the body occurs in several types and is responsible for the so-called strength. Connective tissue. Connective tissue is actually all that is in the cell. Human collagen is encoded several dozen genes and produce it certain specialized cells in the body. Some forms of this disease is inherited in the maternal line, some must carry the defective gene as a father and mother (both are healthy) and the type where the carrier is only one of the parents who also suffer from diseases.That parent then has a 50% chance that their gene forward and to his offspring.

In this disease is defective collagen I type. Either can be reduced its production, or it is produced partly defective or creates a protein that collagen has nothing JOINT. Such collagen is then not curl up in their faces or interfacing with other collagen fibers. It has been shown around 200 mutations that are located at the 7th and 17th chromosome. It was not proven that the disease is bound to sex, boys and girls are affected in the same ratio. The incidence is about 1: 20,000 live births, and the majority are new mutations ill parent is an exception.

Symptoms of the syndrome Lobsteinova

Symptoms depend on the type of illness. In principle, the disease subdivided into five major units 6 to 8 vpodstě type are clinical signs similar to the previous, what specific form it goes to prove histological examination bone. Generally, the disease is characterized by increased brittlenessand fragility of bones, the zlomeminám occurs already during birth when the baby passes through the birth canal. Other symptoms include loss of hearing, blue sclera of the eye (sclera = white part of the eye could see), and increased fragility of teeth. During the development of recurrent fractures lead to bone deformities and overall shortening skeleton. Children grow smaller height, have severe scoliosis (curvature of the spine = the side) have variously loose ligaments.

Categories and their symptoms

I osteogenesis imperfecta

Light type of disease characterized by blue sclerae and fragile bones, but without their deformities. Unfortunately, it often occurs deafness in a relatively early age. Joints are strikingly free and less muscle tone. With age, bone strength improves. A frequent finding is bad tooth development. It describes even easier bruising.

Osteogenesis imperfecta II

In this form of the baby being born dead or die within one month after birth. Collagen, which is synthesized, it is completely broken, the baby has severe fractures, sclera, dark and strikingly dark hair. The skull is soft because the skull bones are not well developed. Children do not properly developed lungs, which may be the cause of death as well as heavy bleeding into the brain, which for this type often encountered.

Osteogenesis imperfecta III

In this type of child survives, but fractures occur during childbirth, heals deformed child, and has restricted growth. Also present blue sclera, hearing loss and poor tooth development. Sclera over time, becoming white. We find also loose ligaments and decreased muscle tone. This type becomesprogressively deforming, which means that the child will be born with a relatively light symptoms, but during the life of the above-mentioned problems appearing in heavier degrees. Despite the severe handicap may be the length of life relatively long. Patients complain of chronic bone pain(ache is an old fracture).

Osteogenesis imperfecta IV

Sclera in this case white, bone deformities are light to medium. Unfortunately it occurs againdeafness and defective tooth development. Over time, the bone strength improves, again, there is a risk of lower growth. Fractures are quite common before puberty. Collagen in this case is enough, but is not produced adequate absorption of “quality.”

The Osteogenesis Imperfecta

It is similar to the previous model. Classification is to histological results. The typical triad of symptoms that the doctor knows of radiographs. For this form is characteristic that patients poorly rotate wrist. Among the ulna and radius because there is a reinforcement of the membrane that connects them, lose its elasticity and thus impairs momentum wrist.

Lobsteinova Syndrome Treatment

It is very difficult, because it is an incurable disease. The disorder is genetic information, yet the doctors can not fix. Treatment is complex and is focused on rehabilitation and improvement of bone strength. It is also possible orthopedic treatment, some bones to stiffen the studs.Physiotherapy is dedicated to strengthening the muscles to be stronger and protect the more bone fractures before. Hydrotherapy is used, it is necessary to strengthen the muscles that maintain upright posture.

For drugs bisphosphonates are used, although in different forms have different results. However, improves bone strength by preventing excessive loss of calcium from the bones. These are drugs that are prescribed to women in the so-called. “Transition”, ie menopause. At this time a woman goes through, it happened many times in my life, significant hormonal changes, which are reflected as her psyche, and on her body. In addition to the forefront of the infamous hot flashes are also changes in the density of bone mass, women are at risk of osteoporosis. Now bisphosphonates are a group of drugs binding to the bone and inhibit cells that bone obdourávají.

Regarding physiotherapy techniques that are used in this disease, is celebrating the success ofhydrotherapy. Like other children, various swimming gym shoes strengthen muscles that are responsible for good posture. Water floats and form a better environment than conventional rehabilitation to dry. Exercising in the pool is nice especially for children, who during his illness soon recognize that fact, any movement they can zbůsobit pain, so water exercise enjoyable. Patients are encouraged to change positions throughout the day to teach yourself to think that they can not stay in one position for too long.

Constantly they should keep in mind that the basis for them is to try to evenly bother muscles involved in maintaining the upright position with the same intensity and at approximately the same time. Thus protect your bones, which could break unreasonable burden. The normal life, according to disease severity using various physical aids such as crutches, wheelchairs, splints, people govern and the houses and apartments that were wheelchair accessible, if possible.

Surgical and orthopedic solutions are rather radical, but it is a success for the subsequent rehabilitation and reduce the incidence of fractures. The center of the bone, into the bone marrow cavity, the contents of which are familiar to most people, the term “marrow”, implanting a long metal rod made of stainless steel. This method is recognized around the world, has been adopted for their outstanding results, even though it looks somewhat drastically. For the treatment of scoliosis, or curvature of the spine, which may oppress the nerves leading from the spinal cord and thus causing significant pain, it is also possible to use a surgical solution. Approaches to so-called.Spinal fusion, which is a combination of several vertebrae together. The vertebrae are joined “glue” that removes the patient before surgery. It contains cells that form new bone. So one gets what is his, minimizing the risk of rejection of some foreign, half body of material that could be used. Of course, that was before přihojí bone grafts must be fixed vertebrae together some support in the form of various screws made of stainless steel, which after some time to come good results of X-ray and CT, are removed from the body. Usually fusion of vertebrae takes between 6 to 12 months.

It is necessary to guard against the risk to external factors, such as smoking, drugs that would odvápňovaly bones because it might prolong the merger. In children, fortunately, these risks are not so great. Of course we must not forget that patients who undergo this operation is increased lomovost entire skeleton, the operation is much more difficult.

Complications Lobsteinova syndrome

Inherent to the disease. The most serious bone fractures are already at an early age, their poor healing and subsequent short stature, excessive flexibility of ligaments, bad curvature of the spine and ribcage deformities. The problem is deafness, among which must otolaryngologist to investigate the middle and inner ear, auditory pathway and decide whether it is possible to intervene in the form of hearing aids or surgery.

Help patients suffering from syndrome Lobsteinovým

It belongs to a team of specialist doctors – pediatricians, orthopedic surgeons, physiotherapists, audiologists, nutritionists, neurologists and internists. Those depending OI selects the most appropriate course of treatment. The patient is monitored for life. It should undergo genetic testing and by the risk of transmission to the child to consider whether it is wise to have children.

If healthy parents have a child with this diagnosis and in mild forms for the current interdisciplinary medical cooperation intentzivní children can live full lives as their healthy peers. Only on themselves must be more careful and learn to risks that illness brings live.

Other names: Osteogenesis imperfecta, bone syndrome refractive

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