As a severe developmental brain disorder, lissencephaly is not curable today. Therapeutic steps lie primarily in symptom relief.
What is lissencephaly?
Lissencephaly is a malformation of the brain. The name lissencephaly is derived from the Greek words for ‘smooth’ (lissos) and ‘brain‘ (encephalon). In the context of lissencephaly, the brain convolutions are not fully formed or are completely absent in an affected individual. A complete absence of brain convolutions in lissencephaly is also referred to in medicine as agyrias; it is characterized, among other things, by a completely smooth brain surface. If only a few brain convolutions are present in lissencephaly, this is called pachygyria. In most cases, lissencephaly leads to severe disabilities in affected individuals. Lissencephaly is a developmental brain disorder that occurs with a relatively low probability; experts cite probabilities ranging from 1 in 20,000 to 1 in 100,000. Boys and girls are affected at about the same rate.
Causes
The cause of lissencephaly is a condition called a migration disorder (also known as a migration disorder), which affects the neurons of the brain in a fetus. This means that in lissencephaly, nerve cells are unable to reach the cerebrum during brain development. This results in very limited connections being able to form in the cerebrum (i.e., the top layer of the brain). The development of lissencephaly in a fetus is usually hereditary: the genetic material of children with lissencephaly usually has changes or defects in several genes (also known as mutations). Such mutations can either develop spontaneously or they can be inherited from the parents. Such inheritance of genetic defects, as a cause of lissencephaly, is autosomal recessive. This means, among other things, that a corresponding change in the genetic material must be present in both parents in order to be passed on to the fetus; if only the gene of one parent is affected, the healthy gene of the other parent takes over its function. If lissencephaly is not based on hereditary factors, the developmental disorder of the brain can be caused, for example, by various viral infections of the unborn child. Also responsible for lissencephaly can be poisoning or circulatory disorders, which can lead to a lack of oxygen supply to the brain of an unborn child during the first three months of pregnancy.
Symptoms, complaints, and signs
Lissencephaly can cause a variety of symptoms and complaints. Generally, affected children do not develop after infancy and cannot walk, talk, or care for themselves. This is accompanied by other signs of the disease, for example hearing and visual disturbances, epileptic seizures and convulsions. As a result of swallowing difficulties, food debris can enter the respiratory tract during feeding, which can result in pneumonia. In addition, symptoms such as hoarseness, sore throat and heartburn occur. In isolated cases, lissencephaly patients present with hydrocephalus. Newborn children also often have a noticeably short, upturned nose and a low birth weight. If lissencephaly is part of a syndrome, other signs of the disease usually develop. For example, in isolated lissencephaly, flaccid muscles and muscle spasms may be noted. In Walker-Warburg syndrome, malformations such as cleft lip and palate and hydrocephalus occur, as well as severe mental impairment. Shortly after birth, affected children suffer from breathing difficulties. Symptoms of lissencephaly appear immediately after birth and become more severe during the first years of life. By the second year of life at the latest, parents usually notice developmental problems before serious symptoms and complications finally develop. The signs of the disease persist throughout life and cannot yet be treated causally.
Diagnosis and course
A suspected diagnosis of lissencephaly may already be possible based on the external appearance of a newborn and on typical symptoms, such as disturbances in hearing and vision or epileptic seizures.Occasionally, newborns with lissencephaly also have what is known as hydrocephalus. A diagnosis can then be confirmed by imaging procedures such as MRI (magnetic resonance imaging) or CT (computer tomography). Genetic material damaged in lissencephaly can be detected by a blood test. Prenatal diagnosis of lissencephaly is possible through procedures such as prenatal MRI, ultrasonography, and amniocentesis. The course of lissencephaly depends on the particular form of brain malformation present. Often, children with lissencephaly remain in the mental developmental stage of an infant and have a reduced life expectancy. Those affected by lissencephaly usually require lifelong care and must be fed, for example.
Complications
As a result of lissencephaly, affected individuals suffer from various malformations and disorders of the brain. These disorders have a very negative effect on the patient’s overall condition and can lead to serious symptoms and complications. Especially in children, lissencephaly leads to severe developmental disorders and thus to limitations and consequential damage in adulthood. Those affected suffer from hearing and vision problems. This can also lead to severe limitations in learning. It is not uncommon for lissencephaly to lead to epilepsy. The malformations in the brain can also lead to paralysis and to various disorders of sensitivity. As a result, the patient’s quality of life is significantly limited and reduced. Unfortunately, it is not possible to treat the symptoms of lissencephaly. For this reason, only symptomatic treatment is performed. However, not all complaints can be limited, so that there is no positive course of the disease. As a rule, patients are often dependent on the help of other people in everyday life and require various therapies. Parents and relatives may also suffer from psychological complaints and depression in the process.
When should you go to the doctor?
If the child has trouble swallowing food or generally shows signs of a feeding disorder, the pediatrician should be consulted. Respiratory problems and symptoms of pneumonia should be clarified in the hospital, as there may be a danger to life. Epileptic seizures and hearing or vision problems should also be investigated and treated quickly. If lissencephaly is indeed the underlying condition, early treatment can significantly improve the child’s quality of life. In addition, the support of medical and nursing staff is a great relief for the parents. For this reason, the family doctor or pediatrician should be consulted in the event of unusual symptoms or a concrete suspicion. The physician can diagnose the disease beyond doubt or rule it out and initiate appropriate therapy. Affected children require lifelong support from doctors and physiotherapists. The psychological effects of the disease on the sufferers and their relatives should be dealt with as part of appropriate therapy. The right doctor for the treatment of lissencephaly is the neurologist. Depending on the symptom picture, ophthalmologists and orthopedists, among others, may be involved in the therapy.
Treatment and therapy
Curative therapy (i.e., a cure) for lissencephaly is not yet possible based on current medical knowledge. Treatment steps for lissencephaly therefore consist predominantly of alleviating any symptoms that occur. Appropriate measures may consist, for example, of targeted physiotherapy (physical therapy) and/or individual occupational therapy.
Outlook and prognosis
The prognosis of lissencephaly is described as unfavorable. Despite all efforts and medical advances, the malformation of the human brain cannot be cured to this day. Brain convolutions are missing in the patient or they were not fully formed in the early developmental process in the womb. This circumstance cannot be changed or corrected by researchers after birth. For this reason, the health impairments remain for life. During medical treatment, doctors focus on alleviating the existing symptoms and improving the quality of life of the affected person.Since the disease leads to a heavy burden on the relatives, this circumstance must be taken into account. The more stable the social and understanding environment, the better the patient’s development. Early stimulation programs can help to achieve an improvement in the overall situation. Targeted training of memory activity but also physiotherapeutic treatment methods are used. In most cases, patients are dependent on daily medical care as well as drug treatment for the rest of their lives. Mobility is severely limited due to the health disorders. Improvements are achieved when exercise sessions are performed outside of the offered therapies in the area of self-help. Due to the severity of the disease, sequelae and further health disorders are possible in the course of life.
Prevention
The options for preventing lissencephaly in a newborn are limited. However, it may be useful to have consistent prenatal diagnostics (prenatal examinations) to prevent lissencephaly, especially in high-risk pregnancies. In medicine, high-risk pregnancies include pregnancies of women who are older than 35 years and who have a known family history of health problems. If lissencephaly is detected in the course of prenatal diagnostics, advice may be given, for example, about terminating the pregnancy.
Follow-up
In most cases, those affected by brain diseases have very few or no aftercare measures available to them. In this context, the brain diseases cannot always be treated, so that such a disease may also result in a reduced life expectancy of the affected person. However, an early diagnosis usually always has a very positive effect on the further course of this disease and can limit further complications or a further worsening of the symptoms. Since brain diseases can also lead to psychological upsets, depression or an altered personality, most patients are also dependent on the support and help of their own family and friends in everyday life. This is especially true if some bodily functions are restricted by the brain diseases. In this context, the further course of aftercare depends strongly on the exact manifestation of the disease, so that no general prediction can be made.
What you can do yourself
The possibilities for self-help are severely limited in lissencephaly. The condition does not allow for a cure, despite best efforts. The focus is on improving the environment as well as a healthy way of life. The patient as well as his relatives should keep a life-affirming attitude despite the limitations caused by the disease. Joint activities and a stable social environment are helpful. In addition, a healthy diet with plenty of vitamins and fiber is beneficial for the internal defense system. With a balanced food intake, general well-being increases and the likelihood of the onset of further illness is reduced. The consumption of stimulants such as alcohol or nicotine should be avoided. Sufficient exercise and time spent in the fresh air also improve the quality of life. In order to ensure sufficient and restful sleep, it is necessary to optimize sleeping conditions. The regeneration processes of the human body depend on sufficient recovery phases without interruptions. Therefore, the sleeping pads, the temperature, the duration of the night’s sleep and the ambient noise should be adjusted to the patient’s needs. There are numerous self-help groups throughout Germany in which sufferers as well as relatives can exchange information. Assistance, tips for everyday life as well as emotional support are given there. In addition, there is the possibility for a digital exchange via forums on the Internet.