Isolated lissencephaly is a congenital maldevelopment of the brain caused by a genetic defect. This leads to very severe physical and mental disabilities in affected children. Isolated lissencephaly is very rare.
What is isolated lissencephaly?
Isolated lissencephaly is a congenital developmental disorder of the human brain and is one of the five forms of lissencephaly. The affected children suffer from severe physical and mental disabilities that are evident from the neonatal period. Doctors generally understand lissencephaly as a migration disorder of the brain, which leads to the fact that the development of the human brain is disturbed between the eighth and sixteenth week of pregnancy. Specifically, in isolated lissencephaly, this maldevelopment causes the circuitry and interconnectedness of neurons in the brain to not function properly. In addition, the cerebral cortex in isolated lissencephaly is smooth and not furrowed as usual. Isolated lissencephaly 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.
Causes
In most cases, isolated lissencephaly is due to a gene mutation, that is, a change in the human genetic material. Chromosome 17 is affected, which is why physicians also refer to it as isolated lissencephaly sequence 17. How exactly the genetic defect that leads to isolated lissencephaly is inherited is not clear. It appears that isolated lissencephaly can be inherited from parents as well as result from an unpredictable change in the genetic makeup. However, there are also known cases of the condition in which no genetic changes have led to isolated lissencephaly.
Symptoms, complaints, and signs
Children who have isolated lissencephaly have a severe developmental disorder. They never leave the developmental stage of an infant and, even in adulthood, cannot walk, talk, or otherwise communicate with their environment. Affected individuals require lifelong care. Isolated lissencephaly can cause a variety of symptoms and complaints. The condition is initially manifested by dysphagia and a tendency to pneumonia. As a result of the typical problems with food intake, vomiting and deficiency symptoms occur. In most cases, this results in weight loss. Affected children also suffer from recurrent seizures and epileptic seizures. The uncontrolled spasms are often accompanied by wetting or self-injurious behavior. For example, sufferers bite their tongues or cramp their arms and legs. In older children, the muscles may become tense. Spasticity is accompanied by flaccid muscles that are less sensitive to touch than in healthy children. Symptoms of isolated lissencephaly usually exist from birth or develop during the first years of life. Symptomatic treatment is very limited, which is why the symptoms persist permanently and increase as a result of physical and mental emaciation.
Diagnosis and course
In most cases, isolated lissencephaly is suspected in the womb. To clarify before birth whether the baby will suffer from the condition, physicians usually recommend amniocentesis if there are abnormalities in the ultrasound. In this test, cells taken from the amniotic fluid are tested for the genetic alteration. In some cases, however, isolated lissencephaly is not detected until after birth. Signs of this condition may include delayed development, swallowing difficulties, unusual movement patterns, or seizures. A blood test provides information about the presence of isolated lissencephaly. Imaging tests, such as a magnetic resonance imaging ([[MRI]6) or computed tomography (CT) scan, are also used to examine the child’s brain to verify the diagnosis using images of the brain. Children who have isolated lissencephaly have a shortened life expectancy.
Complications
This condition causes relatively severe physical and psychological symptoms in the patient.In most cases, the symptoms occur immediately after birth and can significantly reduce the quality of life of the affected person. It is also not uncommon for the parents of the patients to suffer from severe psychological complaints or depression. The children suffer from developmental disorders. Bullying or teasing may also occur. Spasticity and convulsions may also occur. Likewise, in many cases, there are 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 to occur in the lungs and, furthermore, for swallowing difficulties to occur. Life expectancy is considerably reduced and limited by this disease. A causal treatment of this disease is not possible. The symptoms can be partially limited, although no complete cure is possible. Usually, the patient is dependent on therapies and taking medications for the rest of his or her life.
When should one go to the doctor?
Children who show physical as well as mental abnormalities should be examined by a doctor. If there are significant delays in development when compared directly to peers, there is cause for concern. If walking is not learned, there are serious problems with speech or there are difficulties with eating, a doctor must be consulted. If swallowing difficulties occur, food intake is refused, and the child loses weight, medical attention must be sought. There is a threat of malnutrition of the organism, which in severe cases can end with premature death. In case of convulsions, spasticity or epileptic seizures, a visit to the doctor is necessary as soon as possible. If there are disturbances of consciousness or interruptions of respiratory activity, an ambulance service is required. First aid measures should be initiated to ensure the survival of the affected person. If permanent communication problems occur in everyday life, if the child does not respond in a normal way like peers to direct address, or if he or she shows no interest in playful activities, a control examination should be performed. Since the diagnosis of isolated lissencephaly can be made in the womb, the expectant mother is advised to participate in all examinations offered during pregnancy. An analysis of the amniotic fluid already allows a diagnosis to be made and should therefore always be taken advantage of.
Treatment and therapy
Isolated lissencephaly is an incurable genetic disorder, and therefore no effective therapy is currently available. Affected children are usually severely physically and mentally disabled, so their treating physicians are primarily concerned with treating symptoms and sequelae and alleviating symptoms as much as possible. Children suffering from isolated lissencephaly are usually severely developmentally delayed and remain at the mental level of a toddler. They rely on the constant help and support of their family members or caregivers. Because 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. Support for parents by specialized caregivers, as well as appropriate psycho-social support, is strongly recommended when the child has isolated lissencephaly.
Outlook and prognosis
The prognosis of isolated lissencephaly is considered unfavorable. The condition is based on a genetic defect in humans. For legal reasons, researchers and scientists are not allowed to alter the patient’s genetics. Since the disease is based on severe physical as well as mental disabilities, there is no cure at the present stage. There are disturbances of the brain, which lead to various impairments and represent a strong burden for the affected person as well as for the people from the close environment. A life without the daily help of caregivers and relatives is not possible with this disease. Although various therapeutic methods are applied 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, secondary symptoms or further diseases occur. Some of them pose a potential threat to life, so that patients with isolated lissencephaly often have a reduced life expectancy. In addition, affected individuals are dependent on the administration of medications for the rest of their lives. These are intended to alleviate the likelihood of inflammation occurring as well as prevent muscle spasms. The disease is associated with severe developmental delay in the child. Different therapy options are supposed to bring about improvements. Nevertheless, it is currently not possible to get beyond the mental level of a toddler.
Prevention
To date, there are no ways to prevent isolated lissencephaly. However, if there are known cases of isolated lissencephaly in close relatives, it is recommended to have genetic counseling and, if necessary, testing if the child is present. In this way, the risk that one’s own child will develop the disease can be minimized.
Follow-up care
Isolated lissencephaly cannot be cured, which is why follow-up care is more about taking steps to make patients’ lives easier. The affected children suffer from physical and mental disability. For the parents, this means a major adjustment. In order to alleviate the discomfort, they receive useful information from the responsible physician. The patients require medical care throughout their lives, with practical support coming from their guardians. Thus, in everyday interactions, the parents are responsible for the care. Patients do not go to a traditional school, but there are special facilities. Depending on the severity of the disease, patients stay permanently with their parents or they go to a care facility. The quality of life can suffer under difficult conditions. During the constant check-ups, the specialists determine whether certain secondary diseases need to be treated. Physiotherapeutic exercises, which strengthen the muscles, help against the typical muscle weaknesses and spasticity. For the parents, the care means a great deal of effort. 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.
What you can do yourself
Patients affected by Isolated Lissencephaly are usually unable to take self-help measures due to their severe physical as well as mental retardation. Such measures to alleviate symptoms of the disease are therefore in the hands of the parents or guardians. Isolated lissencephaly requires intensive medical care throughout the lifetime of the sufferer. Thus, it is rather the parents of the affected child who need support in everyday life in caring for and looking after the patient. Affected children are not able to attend a normal school. Instead, they receive adapted care in appropriate institutions for children and adolescents with disabilities. Depending on the severity of isolated lissencephaly, patients live at home with their parents or reside in a care facility. In order to improve the patient’s quality of life, check-ups with 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 weak muscles and spasticity, physiotherapy to strengthen them makes sense. In order for the parents of the sick child to cope with the complex care, accompanying psychological therapy for the guardians is very important.
