As a serious developmental disorder of the brain, lissencephaly cannot be cured today. Therapeutic steps are primarily aimed at alleviating the symptoms.
What is lissencephaly?
According to Beautyphoon, lissencephaly is a malformation of the brain. The term lissencephaly is derived from the Greek words for ‘smooth’ (lissos) and ‘brain’ (encephalon).
In the context of lissencephaly, the cerebral convolutions in an affected person are not fully developed or are completely absent. A complete lack of formation of cerebral convolutions in lissencephaly is also referred to in medicine as so-called agyria; it is characterized, among other things, by a completely smooth brain surface. If there are only a few cerebral convolutions in the context of lissencephaly, this is referred to as pachygyria. In most cases, lissencephaly leads to severe disabilities in those affected.
Lissencephaly is a brain developmental disorder that is relatively unlikely to occur; Experts give probabilities of between 1:20,000 and 1:100,000. Boys and girls are affected about equally often.
Lissencephaly is caused by a condition called a migration disorder (also known as a migration disorder) that affects nerve cells in the brain in a fetus. This means that with lissencephaly, nerve cells are unable to reach the cerebrum during brain development. As a result, connections in the cerebrum (i.e. the uppermost layer of the brain) can only form to a very limited extent.
The development of lissencephaly in a fetus is usually hereditary: the genome of children with lissencephaly usually shows 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 the 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 in the unborn child. Lissencephaly can also be caused by 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, Ailments & Signs
Lissencephaly can cause a variety of symptoms and conditions. Generally, affected children stop developing after infancy and are unable to walk, speak, or take care of themselves. This is accompanied by other symptoms, such as hearing and vision disorders, epileptic seizures and convulsions.
As a result of swallowing difficulties, food residues can get into the respiratory tract when feeding, which can result in pneumonia. Symptoms such as hoarseness, sore throat and heartburn also occur. In individual cases, lissencephaly patients have hydrocephalus. Newborn children also often have a conspicuously short, upturned nose and a low birth weight. If lissencephaly is part of a syndrome, other symptoms usually appear.
For example, in isolated lissencephaly, flabby muscles and muscle spasms can be noted. In Walker-Warburg syndrome, malformations such as cleft lip and palate and hydrocephalus as well as severe mental impairment occur. Shortly after birth, the affected children suffer from breathing difficulties.
Symptoms of lissencephaly appear immediately after birth and become more severe during the first few years of life. From the age of two at the latest, the parents usually notice developmental disorders before serious symptoms and complications finally set in. The signs of the disease last a lifetime and have not yet been able to be treated causally.
Diagnosis & History
A suspected diagnosis of lissencephaly can already be possible based on the external appearance of a newborn and on the basis of typical symptoms such as hearing and vision disorders or epileptic seizures. Occasionally newborns with lissencephaly also have what is known as hydrocephaly.
A diagnosis can then be confirmed, among other things, by imaging methods such as MRI (magnetic resonance imaging) or CT (computed 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 type of brain malformation present. Children with lissencephaly often remain at the intellectual developmental stage of an infant and have a reduced life expectancy. Those affected by lissencephaly usually need lifelong care and have to be fed, for example.
Those affected by lissencephaly suffer from various malformations and disorders of the brain. These disorders have a very negative effect on the overall condition of the patient and can lead to serious discomfort and complications. Especially in children, lissencephaly leads to severe developmental disorders and thus also to limitations and consequential damage in adulthood.
Those affected suffer from hearing problems and vision problems. This can also lead to severe limitations in learning. Lissencephaly often leads to epilepsy. The malformations in the brain can also lead to paralysis and various sensory disorders. This significantly restricts and reduces the patient’s quality of life.
Unfortunately, it is not possible to treat the symptoms of lissencephaly. For this reason, only symptomatic treatment is carried out. However, not all symptoms 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 can also suffer from psychological problems and depression.
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. Difficulty breathing and symptoms of pneumonia must be checked in the hospital, as there may be a risk of death. Epileptic seizures and hearing or vision problems should also be investigated and treated quickly. If lissencephaly is actually the cause, early treatment can significantly improve the child’s quality of life. In addition, the support from doctors and nurses is a great relief for the parents.
Therefore, in the case of unusual symptoms or a concrete suspicion, the family doctor or pediatrician should be involved. The doctor can diagnose or rule out the disease without a doubt and initiate appropriate therapy. Affected children need lifelong support from doctors and physiotherapists. The mental effects of the disease on the patient and their relatives should be worked through as part of a suitable therapy. The right doctor for the treatment of lissencephaly is the neurologist. Depending on the symptoms, ophthalmologists and orthopedists, among others, are involved in the therapy.
Treatment & Therapy
A curative therapy (i.e. a cure) of lissencephaly is not yet possible according to the current medical status. Treatment steps for lissencephaly therefore consist primarily of alleviating the symptoms that occur. Appropriate measures can, for example, consist of targeted physiotherapy and /or individual occupational therapy.
Outlook & Forecast
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 have not been fully developed in the early development process in the womb. This fact cannot be changed or corrected by researchers after birth. For this reason, the health impairments remain for life.
During medical treatment, doctors focus on relieving existing symptoms and improving the person’s quality of life. Since the illness causes a great deal of stress for the relatives, this circumstance must be taken into account. The more stable the social and understanding environment, the better the patient’s development. Early intervention programs can help to improve the overall situation. Targeted training of memory activity as well as physiotherapeutic treatment methods are used.
In most cases, patients are dependent on daily medical care and drug treatment for life. Mobility is severely limited due to health problems. Improvements are achieved if self-help training units are also carried out outside of the offered therapies. Due to the severity of the disease, sequelae and other health problems are possible over the course of life.
The options for preventing lissencephaly in a newborn are limited. To prevent lissencephaly, however, it can be useful to have consistent prenatal diagnostics (prenatal examinations) carried out, especially in high- risk pregnancies.
In medicine, high-risk pregnancies include pregnancies in women who are older than 35 years and who have known health problems in their family. If lissencephaly is detected during prenatal diagnostics, advice can be given about an abortion.
In most cases, those affected with brain diseases have very few or no follow-up measures available. The brain diseases cannot always be treated, so that such a disease may also lead to a reduced life expectancy for those affected. An early diagnosis usually has a very positive effect on the further course of this disease and can limit further complications or a further deterioration of the symptoms.
Since the brain diseases can also lead to mental disorders, depression or a changed personality, most patients also depend on the support and help of their own family and friends in everyday life. This is especially true when some bodily functions are restricted by the brain disease. The further course of aftercare depends heavily on the exact severity of the disease, so that no general prediction can be made.
You can do that yourself
The possibilities for self-help are severely limited in lissencephaly. Despite all efforts, the disease cannot be cured. The focus is on improving the environment and a healthy way of life.
Despite the limitations caused by the disease, the patient and their relatives should maintain a life-affirming attitude. Joint activities and a stable social environment are helpful. In addition, a healthy diet with lots of vitamins and fiber is beneficial for the internal defense system. With a balanced diet, general well-being increases and the likelihood of further diseases occurring is reduced. Consumption of stimulants such as alcohol or nicotine should be avoided. Sufficient exercise and spending time in the fresh air also improve the quality of life. In order to ensure sufficient and restful sleep, it is necessary to optimize the 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 tailored to the needs of the patient.
There are numerous self-help groups nationwide in which patients and their relatives can exchange information. Assistance, tips for everyday life and emotional support are given there. There is also the possibility for a digital exchange via forums on the Internet.