Isolated lissencephaly is a congenital abnormal development of the brain caused by a genetic defect. This leads to very severe physical and mental disabilities in the children affected. Isolated lissencephaly is very rare.
What is isolated lissencephaly?
According to bestitude.com, isolated lissencephaly is an incurable, genetic disease, which is why there is currently no effective therapy available.
Isolated lissencephaly is a congenital developmental disorder of the human brain and is one of the five forms of lissencephaly. The sick children suffer from severe physical and mental disabilities that are already evident in newborns.
Doctors generally understand lissencephaly to be a migration disorder of the brain, which causes the development of the human brain to be disrupted between the eighth and sixteenth week of pregnancy. In detail, this misdevelopment in isolated lissencephaly leads to the circuitry and networking of the nerve cells in the brain not functioning correctly.
In addition, the cerebral cortex in isolated lissencephaly is smooth and not provided with the usual furrows. Isolated lissenecephaly differs from the other forms in that in most cases it is caused by an altered gene. In addition to the malformation of the brain, various internal organs are usually not properly formed in isolated lissencephaly.
In most cases, isolated lissencephaly is due to a gene mutation, i.e. a change in the human genetic makeup. Chromosome 17 is affected, which is why doctors also speak of isolated lissencephaly sequence 17.
How exactly the genetic defect that leads to isolated lissencephaly is inherited has not been clarified. It appears that isolated lissencephaly can be inherited from the parents or can result from an unpredictable genetic change. However, cases of the disease are also known in which no genetic changes have led to isolated lissencephaly.
Symptoms, Ailments & Signs
Children suffering from isolated lissencephaly have a serious developmental disability. They never leave the developmental stage of a toddler and even in adulthood they cannot walk, speak or otherwise communicate with their environment. Those affected need lifelong care.
Isolated lissencephaly can cause a variety of symptoms and symptoms. The disease initially manifests itself through swallowing disorders and a tendency to pneumonia. As a result of the typical problems with eating, vomiting and deficiency symptoms occur. This usually results in weight loss.
Affected children also suffer from recurring seizures and epileptic seizures. The uncontrolled spasms are often accompanied by wetting or self-injurious behavior. For example, the sick bite their tongue or cramp their arms and legs. Muscle spasms can occur in older children.
The spasticity is accompanied by flaccid muscles that are less sensitive to touch than in healthy children. The symptoms of isolated lissencephaly usually exist from birth or develop in the first years of life. Symptomatic treatment is only possible to a very limited extent, which is why the symptoms persist and increase as a result of physical and mental exhaustion.
Diagnosis & History
Isolated lissencephaly is usually suspected in the womb. In order to clarify before the birth whether the baby will suffer from the disease, doctors usually recommend an amniocentesis if there are any abnormalities in the ultrasound.
In this test, removed cells are tested for the genetic modification. In some cases, however, isolated lissencephaly is not diagnosed until after birth. Signs of this disease can include delayed development, difficulty swallowing, unusual movement patterns, or seizures.
A blood test provides information about the presence of isolated lissencephaly. The child’s brain is also examined with the help of imaging methods such as magnetic resonance imaging ([[MRI]6) or computed tomography (CT) in order to check the diagnosis with the help of images of the brain. Children suffering from isolated lissencephaly have a reduced life expectancy.
This disease causes relatively severe physical and psychological symptoms in the patient. In most cases, the symptoms appear immediately after birth and can thus significantly reduce the quality of life of those affected. It is also not uncommon for the parents of the patients to suffer from severe mental health problems or depression.
The children suffer from developmental disorders. Bullying or teasing can also occur. Spasticity and cramps can also occur. In many cases, there are also mental limitations and thus retardation. The patient may not be able to cope with everyday life on his own and is dependent on the help of other people.
It is not uncommon for inflammation in the lungs to occur and also for swallowing difficulties. Life expectancy is significantly reduced and limited by this disease. A causal treatment of this disease is not possible. The symptoms can be limited in part, although complete healing is not possible. As a rule, the patient is dependent on therapy and medication for the rest of his life.
When should you go to the doctor?
Children who show physical and mental abnormalities must be examined by a doctor. If there are significant delays in development when compared directly to peers, there is cause for concern. If you cannot learn to walk, have serious problems speaking, or have difficulty eating, you must consult a doctor. If swallowing problems occur, food is refused and the child loses weight, medical help must be sought. There is a risk of an undersupply of the organism, which in severe cases can result in premature death.
In the event of cramps, spasticity or epileptic seizures, a doctor’s visit is required as soon as possible. If consciousness is impaired or breathing stops, an ambulance is required. First aid measures should be initiated to ensure the survival of the victim. If permanent communication problems occur in everyday life, if the child does not react in a normal way to direct speech like peers or if it shows no interest in play activities, a check-up should be carried out.
Since the diagnosis of isolated lissencephaly can already be made in the womb, it is advisable for the expectant mother to take part in all examinations offered during pregnancy. An analysis of the amniotic fluid already enables a diagnosis to be made and should therefore always be used.
Treatment & Therapy
Isolated lissencephaly is an incurable, genetic disease, which is why there is currently no effective therapy available. The affected children are usually severely physically and mentally handicapped, so that the doctors treating them primarily try to treat symptoms and secondary diseases and to alleviate symptoms as much as possible.
Children who suffer from isolated lissencephaly are usually severely developmentally delayed and remain at the mental level of a small child. They depend on the constant help and support of their family members or nursing staff. Since children with isolated lissencephaly have an increased risk of developing pneumonia, the attending physician must pay special attention to their treatment.
Many children also show spasticity or muscle weakness, which can be alleviated with the help of physiotherapy or massage. If the child suffers from isolated lissencephaly, support for the parents from specialist nursing staff and appropriate psychosocial support is highly recommended.
Outlook & Forecast
The prognosis of isolated lissencephaly is considered unfavorable. The disease is based on a genetic defect in humans. For legal reasons, researchers and scientists are not allowed to modify the patient’s genetics. Since the disease is based on severe physical and mental disabilities, there is no cure at the current stage. There are disorders of the brain that lead to various impairments and represent a heavy burden for the person affected and the people in the immediate vicinity.
Life without the daily help of nursing staff and relatives is not possible with this disease. Although various therapy methods are used immediately after birth, the goal of treatment is not the recovery of the patient. The focus is on improving the existing quality of life.
In many cases, sequelae or other diseases occur. Some of them pose a potential threat to life, so patients with isolated lissencephaly often have a reduced life expectancy. In addition, those affected are dependent on medication for life. These are intended to reduce the likelihood of inflammation occurring and prevent muscle cramps. The disease is associated with a strong developmental delay in the child. Different treatment options are intended to bring about improvements. Nevertheless, it is currently not possible to get beyond the mental level of a small child.
So far, there is no way to prevent isolated lissencephaly. However, if cases of isolated lissencephaly are known in the immediate family, it is advisable to have genetic counseling and, if necessary, an examination if you wish to have children. In this way, the risk of your own child becoming ill can be minimized.
There is no cure for isolated lissencephaly, so follow-up care is more about measures that make life easier for the patient. The affected children suffer from physical and mental disabilities. This means a big change for the parents. In order to alleviate the symptoms, they receive useful information from the responsible doctor.
Patients need medical care throughout their lives, with practical support coming from their guardians. In everyday dealings, the parents are responsible for the care. The patients do not go to a traditional school, but there are special institutions. Depending on the severity of the disease, the patients stay permanently with their parents or they come to a care facility.
The quality of life can suffer under difficult conditions. In the constant check-ups, the specialists determine whether certain secondary diseases need to be treated. Physiotherapy exercises that strengthen the muscles help against the typical muscle weaknesses and spasticity. For the parents, childcare means a lot of work. They often need psychological support to cope with the situation. Visiting a self-help group is also helpful in this context and gives those affected more energy for their difficult task.
You can do that yourself
Patients affected by isolated lissencephaly are usually unable to take self-help measures due to their severe physical and mental retardation. Such measures to alleviate symptoms of illness are therefore in the hands of the parents or guardians. Isolated lissencephaly requires intensive medical care throughout the patient’s lifetime. Rather, it is the parents of the sick child who need support in everyday care and support for the patient.
Those affected are unable to attend a normal school. Instead, they receive appropriate care in appropriate facilities for children and young people with disabilities. Depending on the severity of the isolated lissencephaly, the patient lives at home with his parents or lives in a care facility.
In order to increase the quality of life of patients, check-ups by various specialists are particularly important. In this way, those affected receive suitable medication to treat the symptoms and secondary diseases. Since many patients suffer from muscle weakness and spasticity, physiotherapy for strengthening makes sense. In order for the parents of the sick child to be able to cope with the complex care, accompanying psychological therapy by the legal guardians is very important.