Pallister-Killian Syndrome

The Pallister-Killian Syndrome is a hereditary disease that leads to different anatomical abnormalities. In Germany and the surrounding countries, only 38 cases of the syndrome are currently known. Pallister-Killian syndrome is therefore a very rare disease.

What is Pallister-Killian Syndrome?

The Pallister-Killian Syndrome, also Teschler-Nicola Syndrome or Tetrasomy 12p mosaic called, is a genetically inherited disease. The syndrome was first diagnosed by pediatrician and geneticist Philip D. Pallister. The Austrian doctor Wolfgang Killian and the human biologist Maria Teschler-Nicola observed independently of Dr. Pallister 1981 had the same symptoms in four people.

There is a chromosome change in people with Pallister-Killian syndrome. This chromosome change is not that rare in itself. However, the affected children usually die before birth, often even in the first trimester of pregnancy, so that many of these pregnancies go unnoticed.

causes

Pallister-Killian syndrome is caused by the twelfth chromosome. Chromosomes are located in the cell nucleus. They are actually not visible there, their structure can only be clearly recognized during cell division. The chromosome consists of two so-called chromatids, which are connected in the middle by the centromere, a type of constriction. The chromosome looks like an X. Above the centromere, i.e. in the upper part of the X, there are two short arms.

These are also called p-arms, where the p stands for petite (French for small). Below the centromere are two longer arms, the q-arms. People with Pallister-Killian syndrome have four instead of two p-arms in some of their body cells. The two additional p arms merge to form a small chromosome 47. This is called isochrome 12p. The chromosome disorder is caused by defective germ cell maturation in the mother or father of the child.

Symptoms, ailments & signs

In contrast to other chromosomal disorders, such as trisomy 21, Pallister-Killian syndrome is in most cases not diagnosed before birth. Pregnancy usually proceeds without complications. The birth often takes place in the normal way and at the right date. The children are of normal birth weight and height. However, the symptoms of the syndrome are varied and sometimes very serious.

Due to a brain malfunction, the children only have a very slack muscle tone. The muscle tone is the state of tension in the muscles. If this is too limp, for example, the children can only sit up very late or have problems lifting or holding their heads while breastfeeding. The unusual appearance of the children is striking. Her face is very long, her forehead bulging. The lid axis runs obliquely upwards and outwards. The root of the nose is wide and misaligned teeth lead to visual abnormalities in the mouth area.

The hair grows rather sparsely, especially in the area of ​​the temples. Due to an uneven distribution of pigment, the skin looks blotchy, especially on the stomach, back, arms and legs. Most children with Pallister-Killian syndrome are severely mentally retarded. They suffer from severe speech development disorders and sometimes remain silent.

In addition to these common symptoms, children may also have excess fingers or toes. Epileptic seizures that are difficult to control, visual disturbances, heart defects and malformations of the genitals can also occur. Another typical feature of Pallister-Killian syndrome is a high susceptibility to infection.

Diagnosis & course of disease

The diagnosis of Pallister-Killian syndrome is rather difficult. Routine examinations of the chromosomes often wrongly show an inconspicuous picture. A skin biopsy is performed on the children for definitive evidence. The chromosomal abnormality can then be detected in the skin cells cultivated in this way. The prenatal diagnosis is also rather uncertain, because the chromosomal disorder does not show up in all cells.

If, by chance, inconspicuous amniotic fluid cells are removed for prenatal diagnosis, the child can be born with Pallister-Killian syndrome despite these inconspicuous diagnostic findings. People with the disease are severely restricted in their development and depend on physical help and intensive care for a lifetime. Life expectancy depends on the severity of the organ symptoms. There are people with Pallister-Killian syndrome who are over 40 years old.

Complications

Due to Pallister-Killian syndrome, those affected suffer from various deformities and malformations. As a rule, the complications and limitations for this reason also depend very much on the type and severity of these malformations. In most cases, the children experience muscle wasting and a permanent state of muscle tension.

There may also be discomfort when holding the head upright. The unusual appearance of children, especially in childhood, often leads to bullying or teasing, so that the children can also develop mental health problems or depression. In the oral cavity, those affected have misaligned teeth, which can also lead to pain. Pallister-Killian syndrome also leads to mental retardation, so that the patients are mentally very severely handicapped.

For this reason, they usually also need the help of other people in their lives. Heart defects or visual disturbances also occur due to Pallister-Killian syndrome. A causal treatment of Pallister-Killian syndrome is not possible. With the help of various therapies, the symptoms can be limited. However, the course of the disease is not completely positive.

When should you go to the doctor?

Parents who notice muscle disorders, malformations or the typical thinning hair in their child should consult their pediatrician. Pallister-Kilian syndrome is usually diagnosed immediately after birth or as part of a prenatal genetic test. If the symptoms are mild, the disease often only shows up in the first few weeks and months of life. The treatment takes place in a special center for hereditary diseases.

If this happens early on, the patient can live a relatively normal and symptom-free life. Pallister-Killian syndrome is associated with various malformations and complaints. Depending on the symptoms, it is treated by orthopedists, ophthalmologists, ear specialists and cardiologists, among others. Any malformations are first corrected surgically. Then the physiotherapy treatment follows.

Since the sick children often have weak muscles, a physiotherapist must be called in. There is also an increased risk of infections, which is compensated for by various vaccinations and the administration of suitable medication. Despite all the measures, the patients have permanent motor impairments and need the support of a trained nurse. Therapeutic treatment supports the mental development of sick children, who are often marginalized or bullied because of their suffering. Parents should get in touch with special needs schools and kindergartens at an early stage so that the child receives suitable academic support.

Therapy & Treatment

Since it is a genetically inherited disease, causal therapy for the syndrome is not possible. Therapy only deals with the symptoms. Since the children are very limited in their movements and also show little initiative, individual support is very important. Various therapeutic approaches aim to introduce children to the abstract world of thinking. The brain function is to be stimulated through various sensory impressions such as hearing, sight and touch.

The therapists hope that the social intelligence of the children will be promoted by increasing the attention of caregivers. There is also a focus on language development.Language comprehension is to be stimulated and expanded through various linguistic offers. Various occupational and physiotherapeutic methods are used to treat muscular slackness. The goal of therapy here is improved posture control. If the misaligned teeth or the changed nasal structure cause problems with breathing or eating, surgical intervention may be necessary.

The same applies if there is a heart defect. Sometimes heart defects are also treated with medication. If the disease causes tumors, chemotherapeutic treatment may be necessary.

Outlook & forecast

In diseases as rare as Pallister-Killian syndrome, the prognosis is poor because there is little research and few treatment options. So far only 70 cases have become known worldwide. However, the doctors assume a higher number of unreported cases. The genetic disease is difficult to prove.

The reason for the low prevalence of Pallister-Killian syndrome is a change in certain chromosomes. This usually leads to the abortion of the fetus. Few children survive pregnancy. The multitude of neurological and cognitive disorders and malformations can only be treated symptomatically, if at all. Many of those affected need lifelong help from caregivers. The age of those affected depends on the type and severity of their disabilities. Epilepsies often develop in adolescence.

Misalignments or scolioses on the spine can be surgically corrected or alleviated. The muscles are not developing properly. The children are weak and often have learning difficulties. Heart defects or diaphragmatic hernias can lead to death in affected newborns during surgery. With good postnatal problem management and proper care, children with Pallister-Killian syndrome can reach a median age of around forty.

The prognosis varies from person to person. Immune deficiencies often cause severe breathing problems as a result of respiratory infections. Some of those affected die from it at a young age.

prevention

Pallister-Killian syndrome is caused by defective germ cell maturation in one of the parents. This chromosome change cannot be prevented. Prevention of the disease is therefore not possible.

Aftercare

In most cases, people affected by Pallister-Killian syndrome have very few or no special follow-up measures available. Therefore, those affected with this disease should consult a doctor very early to prevent further complications and complaints. If you want to have children, genetic testing and counseling can also be useful to prevent Pallister-Killian syndrome from recurring.

A doctor should therefore be contacted at the first signs and symptoms of the disease. Most of those affected are dependent on various measures of physiotherapy or physiotherapy with this disease. Many of the exercises can be repeated at home, which speeds up the treatment.

In the case of tumors, regular checks should be carried out by a doctor in order to identify other tumors at an early stage and then to treat them. In children with Pallister-Killian syndrome, intensive support and care is necessary. Especially in school, the children must be given special support so that they do not suffer from symptoms in adulthood. It cannot be universally predicted whether the disease will lead to a reduced life expectancy.

You can do that yourself

Patients with Pallister-Killian syndrome require ongoing home care. The sick children have to attend a special kindergarten and later a special school for disabled children. Parents should ensure that the child can build up a social network at an early stage in order to reduce the risk of emotional complaints.

In addition, the diet must be changed. Affected children should consume gentle foods to counteract the often sensitive teeth and inflammation in the mouth. If the child has a heart defect or is suffering from tumors, constant monitoring is necessary. In the event of complications, the emergency doctor must be called immediately, as there is an acute danger to life. If the child survives the first few years of life well, physiotherapy can be started, which must be prepared individually depending on the symptoms.

The Pallister-Killian syndrome also affects the posture and the ability to move about individual body parts, which is why supportive help in the form of walking aids, wheelchairs and the like is always required. In most cases, structural changes have to be made at home so that the special physical requirements of the child are met. At the same time, the parents must keep in close consultation with the team of doctors so that the therapy can be regularly adapted to the child's state of health.