Walker-Warburg syndrome is an extremely rare inherited disorder whose effects affect the brain as well as the eyes and muscles. The symptoms, which are already apparent at birth, usually lead to the death of the children affected by it, who are severely disabled as a result, after only a few months. To date, there is no form of therapy to treat or even cure Walker-Warburg syndrome.
What is Walker-Warburg syndrome?
Walker-Warburg syndrome (WWS) was named after Arthur Earl Walker and Mette Warburg and was first described by them in 1942. On average, one out of about 40,000 newborn children suffers from this thus very rare hereditary disease. Walker-Warburg syndrome is a severe form of lissencephaly (from the Greek “lissos,” meaning smooth) in which the normally furrowed cortex has a smooth surface. Walker-Warburg syndrome is caused by a defective development of the nerves in the cerebellum. This malformation of the brain leads to severe symptoms, often causing the formation of a so-called hydrocephalus in affected newborns, but also malformations of the eyes and the so-called cleft lip and palate, as well as breathing problems. Therefore, most of the newborns suffering from Walker-Warburg syndrome are artificially ventilated immediately after birth. However, many children are stillborn due to Walker-Warburg syndrome.
Causes
Walker-Warburg syndrome is caused by a multiple gene mutation, with the defect in the genetic material being due to different chromosomes. Walker-Warburg syndrome is one of the autosomal recessive inherited diseases. This means that the altered genes do not have sex-specific characteristics (autosomal) and the existing gene alteration only leads to Walker-Warburg syndrome if both father and mother pass on this predisposition to their child (recessive). Thus, the hereditary disease basically only breaks out if both parents have a genetic defect and pass it on to the child, although even in this case only about 25 percent of newborns actually develop Walker-Warburg syndrome.
Symptoms, complaints, and signs
The condition presents with numerous severe symptoms. Lissencephaly is present, meaning that the furrows and convolutions of the cerebral cortex are absent or rudimentary. The cerebellum is significantly reduced in size. The malformations cause reduced growth and pronounced dysfunction of the muscles, so that the limbs hang limply on the body. The children do not learn to move, crawl or walk and they cannot change their position independently. They remain at the infant stage of development. Immediately after birth, breathing problems often occur. Feeding is more difficult, and they must always be fed. Since they inhale rather than swallow food, this leads to increased lung infections (aspiration pneumonia). The babies are aware of their surroundings, but cannot follow moving objects or movements of people with their eyes. The eyes are not normally developed, often the children are blind or have cataracts. They cannot speak and usually a cleft lip and palate is present. Hearing is also impaired. In some affected individuals, excessive fluid accumulation in the ventricles of the brain causes hydrocephalus to form. A fluid-filled bulge at the back of the head (encephalocele) may also develop. Due to the severe malformations of the brain, mental abilities are severely impaired. Often, the children suffer from epileptic seizures.
Diagnosis and course
To diagnose Walker-Warburg syndrome, the pediatrician or other specialist determines whether it is hardening by means of magnetic resonance imaging or computed tomography if it is suspected (based on the typical symptoms already present after birth). In order to obtain an absolutely certain diagnosis as to whether the child is actually suffering from Walker-Warburg syndrome or from another disease with similar symptoms, a blood test of the child is also performed. Walker-Warburg syndrome can also be detected by prenatal amniocentesis in cases where both parents are known to have a genetic disorder, which is then examined genetically.Ultrasound examinations are also used in prenatal suspicion of Walker-Warburg syndrome, but only provide indications of a general maldevelopment of the brain, not a definite diagnosis of this hereditary disease. In its severe form, Walker-Warburg syndrome is fatal, with many of the affected newborns being born dead. Live-born infants affected with Walker-Warburg syndrome usually remain alive for only a few months, or a maximum of two to three years in the milder form of the disease.
Complications
Walker-Warburg syndrome is associated with severe malformations and, as a result, severe limitations in the affected person’s daily life. In this case, the affected person usually suffers from a cleft palate, so that discomfort may occur when taking food and liquids. Dehydration or other deficiency symptoms can also occur due to Walker-Warburg syndrome and make the patient’s daily life more difficult. Furthermore, hydrocephalus and, in many cases, breathing difficulties and a significantly reduced brain size also occur. Most patients also suffer from vision problems or pain in the eyes due to the disease. Mental and psychological complaints are also not uncommon in Walker-Warburg syndrome and have a very negative impact on the patient’s quality of life. In many cases, the patients are thus dependent on the help of other people in their daily lives and can no longer easily perform many everyday tasks. Parents or relatives may also be affected by psychological complaints. Since a causal treatment of Walker-Warburg syndrome is not possible, only the individual symptoms can be treated. Special complications do not occur. Whether Walker-Warburg syndrome leads to decreased life expectancy in the patient cannot be universally predicted.
When should you see a doctor?
The affected person should definitely contact a physician about Walker-Warburg syndrome. Since it is a hereditary disease, it cannot be cured on its own, and a complete cure is not possible anyway. However, early diagnosis always has a positive effect on the further course of the disease, so that the affected person should contact a doctor at the first symptoms of Walker-Warburg syndrome. In most cases, however, the affected children die a few months after birth, so that especially the parents and relatives should consult a psychologist to prevent depression and other psychological upsets. The syndrome is usually diagnosed before birth. A doctor should be consulted if the child suffers from breathing or hearing difficulties. There are various facial malformations and deformities that may also indicate this syndrome. Since treatment of this syndrome can be purely symptomatic, the symptoms cannot be completely relieved, resulting in premature death of the child.
Treatment and therapy
Treatment of children affected by Walker-Warburg syndrome is limited to artificial respiration immediately after birth by medical professionals, as well as loving and empathetic care of the infant or toddler born with Walker-Warburg syndrome on the part of parents and relatives, since no effective form of therapy has yet been found for either the causes or the effects of this hereditary disease. During the usually very short life of their child and especially afterwards, parents and bereaved families affected by Walker-Warburg syndrome can find comfort, support and help in self-help groups, because within these groups, formed by similar experiences and mourning processes, it is much easier to come to terms with the effects caused by Walker-Warburg syndrome in order to return to a “normal” life.
Prevention
Basically, no preventive measures exist for Walker-Warburg syndrome to avoid the condition.However, in the case of a hereditary defect already known in both parents, but also in the case of any abnormalities within the family, as well as in high-risk pregnancies, prenatal diagnostics can help to ensure that Walker-Warburg syndrome is detected at an early stage, so that the parents and the surrounding community can prepare for the impending course of the disease and its inevitable consequences.
Follow-up
Because Walker-Warburg syndrome is not yet treatable causally and inevitably leads to infant death within the first few years of life, follow-up care is not available for affected patients. However, the development of Walker-Warburg syndrome is hereditary. Follow-up care is therefore directed at the parents and close relatives of the affected child, especially siblings. In the event of a new pregnancy, the parents should have prenatal diagnostics performed in order to detect at an early stage whether the child is also affected by Walker-Warburg syndrome. If this is the case, an abortion can be performed early if the parents wish. Special counseling centers for pregnancy conflict counseling help in supporting a decision-making process. In any case, prenatal diagnostics provide certainty about the health of the unborn child. In addition, psychotherapeutic support can be helpful for the parents of a child affected by Walker-Warburg syndrome in order to cope with the personal stress resulting for the parents from the child’s illness. If depression develops in one parent, drug therapy with antidepressants may also be indicated. Healthy relatives and siblings of a person affected by Walker-Warburg syndrome should have a genetic test performed to find out whether they are trait carriers. If so, prenatal diagnostics should also be performed for all pregnancies of siblings of an affected child.
What you can do yourself
This serious genetic condition offers little room for improvement in the overall situation for anyone affected. Rather, self-help lies in the area of coping with the disease. In most cases, the patient’s death occurs within a few weeks or months of life due to the multiple symptoms. To alleviate existing health irregularities, cooperation with the treating physicians is important. The support of a psychotherapist can be found helpful in coping with the disease, especially by the relatives. It is advisable to deal openly with one’s own feelings and ideas so that the parents’ behavior can be better understood by all involved. In many cases, conflicts and interpersonal problems arise among family members because the emotional burden is enormous. These should nevertheless be avoided at all costs so that the organization of the remaining time of life for the patient can be optimized. When taking further medical treatment steps, it is recommended to find a harmonious solution. Pursuing one’s own interests can lead to complications and an additional deterioration of health developments. In situations of excessive demands, relatives should seek help immediately. Acute health developments may occur at any time, for which all involved should be internally prepared.
