MDS stands for Miller-Dieker Syndrome. Miller-Dieker syndrome is a rare congenital developmental disorder of the brain and causes serious damage to the brain structure. Miller-Dieker syndrome is caused by a genetic defect. The disease is incurable and requires lifelong and loving care.
What is Miller-Dieker Syndrome?
Miller-Dieker syndrome is a brain malformation also known as lissencephaly. The term comes from the Greek and means “smooth brain” (lissos = smooth and encephalon = brain). The structure of a normal brain has numerous furrows (sulci) and convolutions (gyri) that form from around the 22nd week of pregnancy. See AbbreviationFinder for abbreviations related to MDS.
In Miller-Dieker syndrome, this development is disturbed and the brain remains largely smooth. The disorder can occur in different forms, from the reduced number to the complete absence of the cerebral convolutions. The bar (corpus callosum), a structure that connects the two hemispheres of the brain and ensures their coordination, is often missing in Miller-Dieker syndrome.
The maldevelopment of the brain leads to numerous serious disabilities in the newborn and causes a short life expectancy. Miller-Dieker syndrome is very rare, with a frequency of 1:50,000.
The cause of Miller-Dieker syndrome is genetic and consists of a mutation of chromosome 17, which is responsible for the development of the cerebral cortex. However, it is also possible that the disorder is triggered by exposure to harmful substances during the second trimester of pregnancy.
The changes in the genetic material can vary in severity. Sometimes the arms of the chromosome are too small, sometimes they are missing entirely. Chromosome 17 is normally responsible for the migration of nerve cells from the inner cavities (ventricles) of the brain outwards into the cerebral cortex. In Miller-Dieker syndrome, this migration is disturbed (migration disorder) and the nerve cells do not reach the cerebral cortex.
As a result, the many necessary connections between the nerve cells do not come about, the furrows and convolutions do not form and the smooth surface of the brain that is typical of Miller-Dieker syndrome develops.
Symptoms, Ailments & Signs
The hallmark of the rare congenital disease is the abnormally developed brain. Typically, the ridges and folds of the cerebral cortex present in a healthy brain are almost entirely absent. The surface is almost smooth. In some cases there are a few rough furrows in a few areas.
Babies are already noticeable at birth with low Apgar values, and breathing disorders can also occur. There is a clear mental handicap. The baby’s skull does not have a normal shape. While the back of the head is usually quite strongly formed, the head as a whole is too small and very narrow, which is referred to as microcephaly.
There are often small indentations on the temple bones, the forehead is relatively high and can show increased wrinkling. The nose also shows abnormalities. It is short with a broad bridge of the nose and the nostrils point forward instead of down. The ears sit lower and deviate from the norm in shape and furrowing.
The distance between the nose and lips is excessively long. The lower jaw is small and set back, resulting in a receding chin. Affected children can suffer from seizures, as well as from muscles that are too limp or too tense. Anomalies of the genitals, malformations of internal organs, difficulties in eating and speech disorders also occur.
Diagnosis & History
The typical symptoms of Müller-Dieker syndrome are low birth weight and a small head caused by microencephaly (small brain). Difficulty breathing can occur during childbirth and Apgar scores, a scoring system that assesses the child’s condition immediately after birth, are very low.
Infants with Miller-Dieker syndrome have facial features such as a high forehead, wide nose with upturned nostrils, low-set ears, a receding chin, and a thin upper lip. In Müller-Dieker syndrome, there are also malformations in organs such as the heart, stomach, genitals or urinary tract. There are often more fingers or toes on the extremities than normal (polydactyly) or individual limbs have grown together (syndactyly).
In addition, seizures and movement disorders occur in Miller-Dieker syndrome. The diagnosis is usually made based on the symptoms. With a sonography (ultrasound examination) through the still open fontanelle and with a magnetic resonance tomography (generates cross-sectional images) the abnormal development of the brain becomes visible. Typical changes can be seen in the EEG (measuring brain waves). Finally, a genetic test can bring the ultimate certainty for the diagnosis of Müller-Dieker syndrome.
The Miller-Dieker syndrome leads to very strong and serious limitations in life and in everyday life for the patient. As a rule, those affected are dependent on lifelong care due to the syndrome and cannot cope with everyday life on their own. The malformations in the brain primarily lead to various mental and motor disorders and limitations.
As a rule, these cannot be treated or treated, since these malformations are irreversible. The patient’s skull is small and there is significant disruption in the patient’s development. A heart defect can also occur, so that the affected person dies of a cardiac death. Life expectancy is reduced by Miller-Dieker syndrome. In some cases, the malformations in the brain also lead to movement disorders or convulsions.
Patients often suffer from spasticity and various facial abnormalities. Especially in children, Miller-Dieker syndrome can lead to bullying or teasing. A causal treatment of Miller-Dieker syndrome is not possible. Those affected are dependent on a living situation therapy and care. Special complications usually do not arise. Life expectancy itself is reduced to about ten years due to the syndrome.
When should you go to the doctor?
Since Miller-Dieker syndrome is a congenital disease, it should always be examined and treated by a doctor. There is no self-healing here, so that the complaints and symptoms can only be alleviated by the intervention of a doctor. A doctor usually has to be consulted for Miller-Dieker syndrome if the person concerned suffers from breathing and developmental disorders. Most patients also show deficits in various school areas and can only participate in everyday life to a very limited extent.
The head can also be deformed by Miller-Dieker syndrome, so these symptoms should also be examined by a doctor. In most cases, the syndrome itself is diagnosed by a doctor before or shortly after birth. Furthermore, a doctor should be visited if the patient suffers from convulsions or speech disorders. Not infrequently, the syndrome also leads to psychological complaints, which can occur not only in the person affected, but also in the relatives or parents. In this case, a visit to a psychologist is recommended. The Miller-Dieker syndrome itself is treated by various specialists.
Treatment & Therapy
There is no curative therapy for Müller-Dieker syndrome as the brain damage is irreversible. If the brain has gone through the erroneous development, it can no longer be undone. Treatment can only be concomitant to alleviate the symptoms.
Antiseizure drugs help stop seizures, and physical therapy can reduce movement disorders. If organs are damaged, appropriate treatments are carried out here.
Overall, children with Müller-Dieker syndrome require comprehensive and lifelong care. Life expectancy depends on the severity of the disease, but most children die within the first six months, and a few live up to ten years of age.
Outlook & Forecast
The prognosis for a toddler with Miller-Dieker Syndrome (MDS) is extremely unfavorable. That is why the majority of women decide to have an abortion before giving birth. According to statistical surveys, in the German-speaking countries it should be over 95 percent of expectant mothers.
Both life expectancy and quality of life suffer in Miller-Dieker syndrome (MDS). Most infants die around six months of age. Heart defects in particular lead to early infant death. They occur in a good two-thirds of all children with MDS. Outliers are rare. The oldest child was probably ten years old. Since disabilities are present, life is dependent on intensive medical support from the very beginning. Therapy can only alleviate the symptoms. A cure, however, is impossible.
The situation is not only stressful for the child itself. Parents in particular often suffer from the deformity. Some require psychological support to cope. It is important to perceive the child as an enrichment in his short life. This is the only way that support can be successful in the face of Miller-Dieker Syndrome (MDS).
You can not prevent Müller-Dieker syndrome because the disease is caused by a genetic defect. However, prenatal (prenatal) examinations can be carried out. If Müller-Dieker syndrome is present, there is a possibility of terminating the pregnancy.
In most cases, those affected with brain diseases have very few or no follow-up measures available. 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 treatment of Miller-Dieker syndrome is relatively complex and lengthy, follow-up care focuses on managing the disease well. Affected people should try to build a basic positive attitude in order to increase their well-being. Relaxation exercises and meditation can help calm and focus the mind.
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. Occasionally, accompanying therapy with a psychologist can alleviate the stress and restore mental balance. 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
Patients affected by Miller-Dieker syndrome suffer from severe intellectual disabilities and usually also from severe physical defects or impairments. Most patients die in childhood before their tenth birthday. These patients are neither able to cope with normal everyday life nor do they have the ability to help themselves.
In most cases, the parents are entrusted with the supervision and care of their severely disabled children. This presents the parents with a very difficult situation, for which they often could not prepare and which they often do not feel up to. That is only too understandable. However, parents or other caregivers can seek professional help and should not hesitate to do so. Initial information about these options is already available in the hospital, and the pediatrician can also advise the parents.
Children affected by Miller-Dieker syndrome often suffer from severe pain from birth, which is caused by their health problems. Many forms of shortness of breath, difficult breathing and very difficult food intake also usually occur. It is therefore particularly important for patients that they are cared for and cared for responsibly and lovingly, but also treated professionally. In most cases, palliative care is used, which can also be provided at home.