Zellweger Syndrome

As Zellweger Syndrome Medicine describes a genetic and fatal metabolic disease. This is shown by the lack of peroxisomes and can be characterized by them. The syndrome is inherited by a gene mutation and can be inherited in a family.

What is Zellweger Syndrome?

At the Zellweger Syndrome it is a relatively rare hereditary disease. It is shown by the lack of peroxisomes (organelles in eukaryotic cells, they are often also called microbodies) and is diagnosed on average in around one in 100,000 babies.

Over 100 cases have been documented since 1964, including siblings. The disease was described in 1964 by the American doctor Hans Ulrich Zellweger, after whom the syndrome was named. He had diagnosed the genetic defect in twins.

causes

The syndrome is primarily characterized by non-existent peroxisomes or by a disrupted peroxisomal gene structure (called biogenesis). This is due to innate and often inherited gene mutations. The genes that are largely responsible for the development of peroxisomes are usually affected.

Various biochemical reactions take place in the peroxisomes, which are directly or indirectly related to the breakdown and formation of various endogenous substances such as fatty and bile acids. However, it is still unclear what role the peroxisomes play in the body as an essential substance and what exactly causes their failure or disruption in Zellweger syndrome.

The genetic disorders or the lack of peroxisomes in Zellweger's syndrome are often associated with the loss of certain liver, kidney and other organ functions. In addition, inactive peroxisomal enzymes can occur, which, depending on the severity, can affect different metabolic functions of the body in different ways. According to this, the present "cause" can show itself through various symptoms, which in turn cause other complaints. In addition, the Zellweger syndrome is now researched in two types, the actual Zellweger syndrome and the so-called pseudo-Zellweger syndrome. One speaks of the latter when the peroxisomal enzymes are inactive.

Symptoms, ailments & signs

The Zellweger syndrome manifests itself through a multitude of special features on the entire body of the newborn. Often, for example, there is a vertical malformation or overdevelopment of the head (called long skull), a poorly pronounced root of the nose, a flat and rectangular face, a relatively large distance between the eyes (called hypertelorism), clouding of the cornea and lens.

In addition, there are cysts in the brain, underdevelopment of the lungs and severe cognitive disabilities, severe psychomotor developmental delays and defective development of the external genital organs in girls.

In addition, the Zellweger syndrome often shows itself through rather shrill-sounding crying, through lack of reflexes, through epilepsy, through difficult breathing and through short stature. In addition, affected children are usually born prematurely and therefore well before the calculated due date.

However, the lists of symptoms, ailments and signs associated with Zellweger syndrome are far from over. Because the symptoms, signs and peculiarities can appear in various forms and combinations. For this reason, the syndrome is still not always correctly diagnosed immediately.

Diagnosis & course of disease

Zellweger syndrome is diagnosed in most babies by the clearly visible signs on the face or by cysts in the brain. A diagnosis of the syndrome can also be made by detecting changes in the body's own fatty acids. In a culture of the fibroblasts and hepatocytes, the absence of peroxisomes can also be determined and thus also detected.

Finally, the diagnosis should be confirmed by identifying the genetic mutation due to its numerous symptoms, signs and complaints, which often occur in very different combinations.

The syndrome cannot always be diagnosed directly and, due to its multitude of different symptoms, signs and complaints, it can quickly be confused with other hereditary diseases, diseases and gene mutations. This is why it is still possible today that the syndrome is not recognized as such at all or only later.

In addition, the disease always proceeds differently depending on the severity of the syndrome. The main thing here is which parts of the body, organs and body functions are affected and how severely. Even today, children who suffer from the syndrome are considered unable to survive and die in the first few months after their birth.

Complications

Zellweger syndrome is a serious disease that can cause various complications as it progresses. Characteristic disorders such as the opacity of the cornea and lens result in impaired vision and can lead to partial or complete blindness in the later stages. An underdeveloped lung is associated with decreased performance.

In addition, breathing difficulties and an insufficient supply of oxygen to the brain can occur. The typical cognitive disabilities and psychomotor development delays often also have emotional effects. This affects not only the sick, but also their relatives, who mostly suffer from the stress and the poor general condition of the person concerned. Other complications that can occur are epilepsy and neurological disorders, both of which are associated with the risk of accidents.

The Zellweger syndrome is almost always fatal, as no effective treatment options exist to date. Although the individual symptoms and complaints can be treated, this is also associated with risks. Since those affected are almost always infants and toddlers, marginal errors in surgical interventions or medication can have serious health consequences.

When should you go to the doctor?

Since the disease is hereditary, if the disorder occurs in families, you should contact a doctor before planning any offspring. Although the syndrome is very rare, it can be passed on to offspring. If a diagnosis has already been made within the family, a doctor should be consulted at an early stage.

If parents do not have any knowledge of a genetic disposition within the family, visual abnormalities in the child often appear immediately after birth. In addition, premature birth is often recorded. Usually the birth is accompanied by an obstetrician team or a doctor. These carry out the first examinations of the baby in a routine process. The visual abnormalities in the area of ​​the face are therefore noticed by them immediately after the birth. Further investigations will be initiated to clarify the cause.

If, in rare cases, no diagnosis is made in infancy, parents should consult a doctor as soon as their offspring shows developmental delays. In the event of seizures, behavioral disorders in the child or visual abnormalities in the growth process, a doctor's visit is necessary. A clouding of the cornea, disturbances in breathing as well as peculiarities of the memory performance are further signs of a health impairment. Medical examinations are necessary so that the first treatment steps can be initiated at an early stage.

Treatment & Therapy

Despite the most modern research, a cure of the syndrome is still not possible because there are no treatment or therapy options. Only certain ailments and symptoms can be treated so that they can possibly be reduced. But this is also not the case across the board.Children with Zellweger's syndrome are not considered to be viable in the long term, as the syndrome is always fatal according to current knowledge. All previously known children died within the first months of life.

prevention

Since Zellweger syndrome is an innate, genetic mutation, it cannot be prevented. However, today certain symptoms and signs can under certain circumstances be diagnosed in the womb using various examination methods. For example, this often makes sense or is the case when an affected couple has already given birth to an infant with the genetic disorder. Even today, however, not all combinations of the genetic disorder can be diagnosed correctly in advance.

Aftercare

In most cases, the affected person has very few and only very limited measures of direct follow-up care available in Zellweger syndrome. Therefore, the person affected with this disease should consult a doctor at an early stage and initiate treatment so that there are no further complaints or complications. An early diagnosis usually has a very positive effect on the further course of the disease.

Since this is a genetic disease, it cannot be cured in most cases. Therefore, if the person concerned wishes to have children, a genetic test is primarily advisable in order to determine the possibility of a recurrence of Zellweger's syndrome in the descendants.

Furthermore, in many cases, care and support from one's own family is very important. This can also prevent depression and other mental disorders. The parents are often dependent on psychological treatment, as the children usually die quickly. Contact with other sufferers of Zellweger Syndrome can be very useful, as this leads to an exchange of information.

You can do that yourself

Zellweger syndrome is usually fatal for the sick child. The most important self-help measure consists in dealing openly with the disease.

It is important to use the time available with the child. The close relatives are usually able to spend the time in hospital after the birth. Special mother and child rooms are provided in most specialist clinics and are a good way for parents to spend time with the sick child. Parents should seek trauma therapy at an early stage or consult a self-help group in consultation with the doctor.

In addition, it is important to make preparations for the death of the child and, for example, organize a baptism or funeral. The doctor in charge will help.

Zellweger syndrome is an extremely rare condition, which is why the treatment of the disease is usually only possible in internet forums or a few self-help groups. The relatives should also read specialist literature and visit a specialist center for metabolic disorders. Discussions with specialists help to understand the rare syndrome and thus to process the child's disease.