Brachycephalus represents a deformity of the skull caused by premature ossification of the cranial suture. The head appears round due to its shortness and width. Because the brain‘s growth is restricted by this deformation of the skull, brachycephalus must be treated surgically at an early stage.
What is brachycephalus?
The term brachycephalus comes from the Greek and means “round-headedness” or “short-headedness.” The term brachycephaly may also be used synonymously with this term. The cause is uneven skull growth due to premature closure of the cranial suture. Several head shapes are distinguished within the normal population. These are long skull (dolichocephalus), medium skull (mesocephalus) and short skull (brachycephalus). In extreme cases of these skull shapes, a pathological disorder of skull growth is present. In anthropology, skull shapes play a major role in determining ancestry. The measuring method according to Karolyi has become generally accepted. This measurement, also known as the cranial index, determines the ratio of the greatest head width to the greatest head length. The resulting length-width index ranges from 70/75 for a long skull to 80/85 for a short skull. If this index range is exceeded, pathological skull deformities are present.
Causes
The cause of brachycephalus is premature ossification of the coronal suture. The coronal suture, also called the coronal suture, is a connective tissue-like suture between the front part of the skull (Os frontale) and the two back parts of the skull (Ossa parietalia). Normally, ossification of the sutures begins in the second year of life and is usually completed between the ages of six and eight. However, if the coronal suture closes prematurely, the longitudinal growth of the skull is stopped. Compensatory growth of the skull in height then often occurs, leading to the formation of a so-called tower skull (turricephalus). Premature suture closure is also called craniostenosis. Brachycephalus is only one form of craniostenosis. In many cases, the causes of craniostenosis are not known. Among other things, they can occur in the context of genetic diseases such as Apert syndrome or Crouzon disease. Frequently, they also occur in isolation as the only symptom. In these cases, intrauterine developmental disorders probably play a role. Premature suture closure and consequent craniostenosis may also occur in disorders of bone metabolism. It has also been established that smoking during pregnancy can lead to corresponding maldevelopments.
Symptoms, complaints, and signs
The symptoms depend on the severity of the brachycephalus. The earlier the coronal suture ossifies, the more severe the corresponding deformities. Intracranial pressure is critical for brain development. Intracranial pressure is the growth of the brain against the too small skull. As a rule, the growth of the skull adjusts to the growth of the brain. This is made possible by the unclosed connective tissue-like sutures in the skull. In the process, the suture expands, stimulating skull growth. However, if a suture closes too early, brain development can suffer. Brachycephalus is also often associated with vision problems.
Diagnosis
Brachycephalus is diagnosed by measuring the cranial index. If this is above 85, abnormal short stature can be assumed. Furthermore, imaging techniques such as x-rays and CT scans are used. With a CT scan, the skull can be visualized in three dimensions. This proves to be helpful in planning the therapy. Diagnostics also include examinations for any existing brain damage. Among other things, an EEG is recorded for this purpose. In addition, eye examinations and examinations for possible neurological deficits must also take place.
When should one go to the doctor?
In most cases, this condition is detected relatively early or immediately after the birth of the child. Early treatment and diagnosis of this disease has a very positive effect on its course, and in the process can completely limit various complaints and complications.As a rule, a doctor must be consulted when there are ossifications or deformations of the patient’s skull bones. In most cases, these are clearly visible or palpable. Slowed development of the child may also indicate brain disorders, so this complaint should also be investigated. Usually, a general practitioner or a pediatrician can be consulted for this. However, further diagnosis is made by X-ray. Surgical interventions are necessary for the therapy, so that this treatment usually takes place in a hospital. Early surgery can thus prevent later complications and consequences. For this reason, regular examinations by a doctor are very important, especially in children.
Treatment and therapy
Brachycephalus can be completely corrected only by early surgery. Incidentally, this also applies to all other craniostenoses. The affected sections of the skull are remodeled in the process. To plan the operation, a model can be created beforehand from the CT data. During the operation, the bony skull must first be opened. This procedure is called a craniotomy. In brachycephalus, this operation is also combined with a craniectomy. In this procedure, parts of the skull roof are removed neurosurgically for reconstruction and then reimplantation. Reconstruction of the skull shape usually involves the use of resorbable plastic plates or screws. Because these materials are resorbed, no further surgery is needed later. The surgery should be performed at seven to twelve months of age. At this age, the results of the operation are usually still so good that the skull shape can even be completely adjusted. The deviating skull shapes are then no longer noticeable later on. Brain damage can also be avoided by this early treatment. Later corrections of an already solidified skull deformation can no longer reverse brain damage that has already occurred. Adjusting the shape of the skull will also not be as successful.
Outlook and prognosis
The prognosis of brachycephalus is good if medical treatment is sought. The deformity of the head is corrected in a surgical procedure. If there are no other conditions, the patient is discharged as cured after completion of the subsequent healing process. The surgery is extensive and takes several hours with trained as well as experienced doctors. In addition, it is associated with the usual risks and side effects of surgery under general anesthesia. If the child is in good health and has a stable immune system according to his age, he can participate in everyday life again undiminished within a few weeks after the operation. Nevertheless, the child should be spared for several months. Without medical care, the prognosis is very unfavorable. In severe cases, the patient may die. The head is deformed in such a way that within the natural process of growth and development the brain has too little space inside the head. Blood vessels constrict, headaches occur and the pressure in the head is increased. If immediate action is not taken, blood congestion occurs. In the further course, blood vessels burst and the patient experiences a stroke. In addition to lifelong impairments, the patient is at risk of premature death without immediate intensive medical care.
Prevention
Because the causes of brachycephalus, as well as all craniostenoses, are generally unknown, there are no strategies for its prevention. Often, the deformities occur in the context of genetic disorders. Here, in the case of familial accumulation, the risk for the offspring can possibly be assessed in the course of a human genetic examination. Intrauterine developmental disorders can also be triggered by environmental toxins and drugs. Thus, it is known that smoking during pregnancy can lead to these disorders. Therefore, smoking and drinking alcohol should be avoided during pregnancy.
This is what you can do yourself
Brachycephalus manifests itself already in infants, so patients themselves play a minor role in self-help.Rather, it is the parents of the sick child who, with their care and decisions, exert a significant influence on the course of the disease and the patient’s later quality of life. The skull operation, which is usually necessary, should be performed as early as possible, although it is a difficult procedure. If possible, the parents accompany the sick child during the stay in the hospital. Adequate medication is necessary to alleviate pain. Regular follow-up examinations are also necessary for a long period of time after the operation. The parents are usually exposed to considerable psychological stress due to the brachycephalus of the child and sometimes develop depression or other mental illnesses. Therefore, the treatment of the custodians by a psychotherapist is useful to ensure the care of the patient as well. If surgery to correct brachycephalus is not performed or is performed too late, some patients develop brain development disorders. In addition, visual disturbances are possible, which in turn require appropriate therapy. Patients regularly visit ophthalmologists as well as optometrists in advanced age and use appropriate visual aids.
