Wiedemann-Rautenstrauch Syndrome

Wiedemann-Rautenstrauch Syndrome

Wiedemann -Rautenstrauch syndrome is a very rare genetic disease associated with premature aging and a poor prognosis. Only a few cases of this syndrome have been described to date. A causal therapy is not possible.

What is Wiedemann-Rautenstrauch Syndrome?

The Wiedemann-Rautenstrauch syndrome already shows symptoms of premature aging at birth, various dysmorphisms, reduction of white adipose tissue, an enlarged skull or disturbed hair growth. This disease was first described in 1977 by the doctors Rautenstrauch and Snigula. For cat scratch disease meanings, please visit whicheverhealth.com.

Further descriptions followed by Wiedemann in 1979, by Devos in 1981 and by Rudin in 1988. Since then, only around 60 cases of Wiedemann-Rautenstrauch syndrome have become known. These cases are mainly from Europe, Arabia or Africa. This syndrome is one of the so-called progeroid syndromes.

These are diseases that are characterized by premature aging. The best-known example of this group of diseases is progeria. All progeroid syndromes appear to be genetic, most commonly a mutation in a single gene. The Wiedemann-Rautenstrauch syndrome is also caused by the mutation of a single gene.

However, the exact etiology of the disease is not yet known. The prognosis of Wiedemann-Rautenstrauch syndrome is very poor. Death usually occurs within the first seven months of life due to severe infections or coronary artery sclerosis. In very rare cases, however, the children survive to puberty.

Causes

So far it is not clear whether a uniform cause for the Wiedemann-Rautenstrauch syndrome can be assumed. The disease occurs sporadically. A genetic defect has been proven which affects the synthesis of collagen III or elastin synthesis. In some cases, a familial accumulation was found, so that an autosomal recessive inheritance is assumed here.

Once even siblings whose parents were related by blood were affected. However, other observations also point to a possible autosomal dominant inheritance, whereby a gene localization at 1q32 is said to be affected. However, some patients also show increased chromosome fragility, which provides an indication of a possible DNA repair defect. In the case of the autosomal dominant form of inheritance, the father’s age of conception was increased on average.

Symptoms, Ailments & Signs

Wiedemann-Rautenstrauch syndrome is characterized by a variety of dysmorphism and health limitations. The overarching main symptom is premature aging with the early onset of typical signs of aging. Growth disorders occur even before birth, so that the child is born with a reduced birth weight and reduced height.

The body weight is between 2100 and 2500 grams and the body length is between 45 and 49 centimetres. After birth, feeding difficulties with failure to thrive quickly arise. The head appears too big. The face, in contrast, is small with a triangular appearance. At the same time, it already looks pre-aged to senile. The cranial sutures are still open and are closing only slowly.

The skin appears scleroderma-like thick. There is also a pronounced vein marking. Even the sparse hair is already gray and falls out quickly. If the eyelashes and eyebrows are not well developed and if the eyes are deep-set, the eyelids together with the eyelashes are turned either inwards or outwards. The lower eyelid can be inverted or protruded.

Other manifestations include low-set pinnae and progressive development of a beaked nose. The lower jaw is too small and the chin protrudes. Incisors are often already present at birth and soon fall out. The teeth that erupt afterwards often show dysplastic changes. While the arms and legs are too thin, the hands, feet, fingers and toes become too big.

The nails are again too small. The adipose tissue is paradoxically distributed. In most places, there is little subcutaneous fat. However, heavier accumulations of fat occur in the areas of the flanks, buttocks or genitals. Overall, growth is delayed, resulting in short stature. In boys, the testicles often do not descend into the scrotum, but remain in the abdominal cavity.

Premature aging is characterized by the early development of arteriosclerosis. At the same time, the risk of infection is very high. Patients who survive longer develop moderate to severe intellectual disability. Furthermore, there are coordination disorders, tremors or trembling of the eyes. The increasing physical disability often makes a wheelchair necessary.

Diagnosis & course of disease

Wiedemann-Rautenstrauch syndrome can be suspected based on the appearance and symptoms. Molecular genetic examinations, X-ray examinations of the skeleton, imaging examinations of the brain and functional examinations of the nervous system should be carried out for differential diagnostic differentiation from other syndromes with similar symptoms. In the brain there is a serious change in the white matter and in the nervous system there is extensive demyelination due to myelination disorders.

Complications

The Wiedemann-Rautenstrauch syndrome can cause various complications in its course. A typical consequence of the disease is the early childhood growth disorders, which can lead to various malformations in the head, limbs, blood vessels and spine. If malformations occur in the spine, this can cause postural damage.

Malformations in the vessels lead, for example, to an increase in the thickness of the veins, which is associated with cardiovascular problems. In the area of ​​the skull, malformations always cause serious complications. This can lead to hearing impairment, brain damage, breathing difficulties and visual disturbances.

In the skin area, the Wiedemann-Rautenstrauch syndrome leads to thickening and the development of edema. The disease can cause complications such as arteriosclerosis, infections, mental retardation and infertility. Life expectancy is usually severely limited and the affected child dies in the first few years of life.

If the patient survives into adolescence, the abnormalities usually also cause psychological symptoms, such as social anxiety, inferiority complexes or depressive moods. Treatment is purely symptomatic and is associated with the typical risks of surgery and medication. The diverse complications require individually tailored therapy.

When should you go to the doctor?

If there are any abnormalities or irregularities in the development and growth process of the child, these should always be discussed with a doctor. In most cases, the first health problems can be identified immediately after birth. These are usually documented by obstetricians and forwarded to the attending physician. Further tests are often carried out automatically at this stage in order to clarify the cause.

Peculiarities in nutrition, general behavioral disorders or an unusual appearance are signs of a health problem. If the optical signs of aging in a child are fundamentally different from those of other animals of the same age, the observations should be discussed with a doctor. Already after birth, the reduced birth weight and a reduced body size are the first warning signals of the organism and should be monitored accordingly. If failures to thrive appear in the course of the coming weeks or months, consultation with a doctor is necessary.

Optical changes in the area of ​​the face, nails and genitals should also be discussed with a doctor. Medical tests are necessary to determine the cause. If children already have gray hair, this is considered unusual. Concentration disorders, problems with learning and irregular movements are other complaints that require the cooperation of a doctor.

Treatment & Therapy

There is currently no curative therapy for Wiedemann-Rautenstrauch syndrome. Only symptomatic standard therapies can be carried out. These include early intervention or physiotherapy. The many complications that occur require correspondingly adapted symptomatic therapies.

This applies both to the treatment of recurrent infections and to the consequences of pronounced arteriosclerosis. These measures serve to prolong life and improve the quality of life. Ideally, the child can reach puberty. Possible curative therapeutic approaches are still being researched.

Prevention

Wiedemann-Rautenstrauch syndrome is very rare and usually sporadic. There is therefore no recommendation for prevention. Human genetic counseling should only be used to assess the risk if the condition is familial.

Aftercare

Since the Wiedemann-Rautenstrauch syndrome is a hereditary disease, it cannot usually be completely cured. Therefore, only very few and limited direct follow-up measures are available to those affected. First and foremost, a doctor should be consulted as early as possible so that further complications and symptoms do not occur.

If they wish to have children, those affected should also have a genetic examination and counseling carried out so that the syndrome does not occur again in their descendants. As a rule, those affected by Wiedemann-Rautenstrauch syndrome are dependent on physiotherapy and physiotherapy. Many of the exercises can also be repeated at home, speeding up healing.

The help and support of one’s own family is also very important and can prevent depression and other psychological upsets. Not infrequently, contact with other people affected by Wiedemann-Rautenstrauch syndrome can be very useful. This leads to an exchange of information, which can make everyday life easier for those affected. The further course of the syndrome cannot generally be predicted. However, in most cases, the disease does not reduce the life expectancy of the person affected.

You can do that yourself

The possibilities of self-help are extremely limited in the Wiedemann-Rautenstrauch syndrome. In everyday life, care should be taken to ensure that the organization of life does not lead to any further complications. Close cooperation with the treating physicians is of particular importance for alleviating the symptoms.

The disease is a heavy burden for the patient as well as for their relatives. It has proven to be helpful to take advantage of psychotherapeutic help. In this way, all those affected can learn how to best deal with the overall circumstances in everyday life. In particular, the processing of the events can be promoted. Ultimately, this supports well-being and can lead to an improved attitude.

The physical as well as the mental stress in everyday life must be adapted to the patient’s possibilities. Otherwise, the problems can be expected to increase. If relatives notice signs of being overwhelmed, they should definitely seek help for themselves. The organism should be supported by a healthy and balanced diet. As a result, further diseases such as infections can be reduced to a minimum. Since the disease is associated with a reduced life expectancy, the time available should be used consciously. The joie de vivre should be strengthened through leisure activities.

Wiedemann-Rautenstrauch Syndrome