Diastematomyelia is a malformation of the spinal canal that exists in affected patients from birth. Diastematomyelia is very rare and manifests as a longitudinal division of some sections of the spinal cord. Diastematomyelia belongs to the category of dysraphia.
What is diastematomyelia?
The disease term diastematomyelia is derived from the Greek and is made up of the words for back and interspace. In diastematomyelia, a spur or septum cuts through the medulla of the back, creating two areas. The spur is made of a substance that resembles bone and cartilage. These structures divide the spinal canal longitudinally into two areas. The division extends over at least one vertebral body, but often a larger number are affected. Diastematomyelia is a congenital malformation of the back and was first scientifically described in 1827 by the physician Oliver. Sometimes there is confusion between diastematomyelia and diplomyelia due to the similar disease term. However, this is a disease in which the medulla of the back is partially duplicated. In 1992, Pang, a physician, and his colleagues proposed that diastematomyelia and diplomyelia be referred to by a single disease term, ‘split cord malformation’. Pang divided the disease into two types. In split cord type 1, two dural tubes are present that are not connected. In type 2, patients have a single dural tube.
Causes
Diastematomyelia represents a congenital disorder of the spinal cord. The exact causes for the formation of diastematomyelia are currently unknown. It is possible that genetic causes are responsible for the development of diastematomyelia in patients. In addition, spontaneous malformations during pregnancy in the growing embryos are a possibility. Due to the congenital malformation, the spinal cord is duplicated in diastematomyelia. Thus, the disease belongs to the dysrhapic disorders. The two anlagen for the spinal cord are usually not identical and have individual membranes. A septum or spur separates the spinal cord in the spinal canal. The spur usually originates from the posterior side of the vertebral bodies.
Symptoms, complaints, and signs
Diastematomyelia is characterized by a typical combination of three symptoms. For example, patients with diastematomyelia suffer from scoliosis, have skin changes in the area above the spine, and show abnormalities in the lower limbs. Above the spine, in the majority of cases, there is a special hairiness of the skin. In addition, pigmentary nevi, a dermal sinus, hemangiomatosis, lipomas, and pilonidal sinuses often appear in this area. On the feet, neurological changes develop due to diastematomyelia in some patients. The spine sometimes becomes curved, and nerves also usually drop out on a single leg. Diastematomyelia rarely manifests for the first time in adult patients. Instead, the typical symptoms of diastematomyelia often develop in individuals at a young age. If the myelon is laid out asymmetrically, neurological deficits sometimes occur on the side of the body that is weaker developed. The corresponding deficits then occur regularly. Patients with diastematomyelia also suffer from scoliosis due to the defective posture and deformities. The medulla of the back is locally fixed, so that impairments occur at the ascensus during the growth phase. As a result, the typical neurological and orthopedic secondary symptoms of diastematomyelia develop.
Diagnosis
The diagnosis of diastematomyelia is usually made by an orthopedic surgeon, who first takes a history with the patient regarding symptoms and medical history. After the patient interview, the specialist examines the physical complaints on the basis of a visual examination and various examination techniques. Standard x-ray methods are used to visualize the spine. The physician focuses on the arch roots, vertebral bodies and the vertebral arch and examines the areas for anomalies. In the process, the specialist often already discovers the bony spur that causes diastematomyelia.To visualize the changes in the spinal cord even more precisely, the physician uses an MRI examination. This also allows the cartilaginous structures in the area of the spinal column to be clearly visualized. With the help of a myelography as well as a CT scan, the dural tube is clearly visible. In principle, diastematomyelia can be diagnosed prenatally by means of sonography. The same examination procedure is also suitable to detect diastematomyelia in newborn children and babies. The differential diagnosis of diastematomyelia excludes tethered cord syndrome and syringomyelia.
When should you see a doctor?
If the symptoms of diastematomyelia cause increasing discomfort, a doctor should be consulted. For example, if neurological changes in the feet or curvature of the spine are noticed, a medical professional should be involved. The same applies to sensory disturbances and signs of paralysis in the limbs. In general, if unusual symptoms appear that seem to gradually increase, the appropriate physician should be informed. Diastematomyelia usually progresses slowly and causes a wide variety of complaints during its course that require clarification. In particular, malpositions and deformities that seem to occur overnight should be clarified – either by the family doctor or by a specialist for the respective symptom. This should be accompanied by the involvement of a therapist. Patients who also suffer psychologically from the increasing physical stress must have this treated in any case. If a fall occurs due to poor posture or sudden discomfort, the emergency services must be alerted. Subsequently, a longer hospital stay is usually indicated, during which the symptoms of diastematomyelia are clarified once again.
Treatment and therapy
Today, the options for treating diastematomyelia are varied. The conservative therapeutic approach focuses on physiotherapeutic care of patients with regular physiotherapy sessions. As part of the symptomatic treatment of diastematomyelia, spasmolytic therapy is also possible. Drugs from the group of spasmolytics increase the tone of the muscles and thus support patients with diastematomyelia. Surgery for diastematomyelia is necessary when tethered cord syndrome is present.
Outlook and prognosis
Diastematomyelia leads to various unpleasant symptoms that can significantly limit the patient’s daily life. For this reason, treatment is necessary in any case. If diastematomyelia does not result in treatment, affected individuals will suffer from various neurologic deficits and continued skin changes. Extreme hairiness of the skin may also occur. In some cases, the disease also leads to deformities, and the symptoms can also intensify without treatment. The child’s development is slowed down and restricted. Furthermore, the malformations can also lead to bullying or teasing, which can result in psychological complaints. The individual complaints can usually be treated well, so that the diastematomyelia can be completely limited. The affected person is dependent on therapies and on various exercises. In some cases, however, the use of medication or surgical intervention is necessary. However, the aim is to achieve a complete cure, which can usually be achieved. There are no particular complications. The life expectancy of the affected person is also not negatively affected if diastematomyelia is treated properly.
Prevention
Diastematomyelia is congenital, so it is not currently possible to effectively prevent the disease. However, diastematomyelia can be diagnosed in embryos in the womb by sonography.
Follow-up
In most cases of diastematomyelia, no direct measures of aftercare are available to the patient. In this case, the affected person must first rely on complete examination and treatment by a physician to alleviate further symptoms and avoid complications. In the worst case, paralysis may result, which can no longer be treated. Since this is also a congenital disease, it cannot be treated causally.In most cases, diastematomyelia is treated by means of physiotherapy. Patients are dependent on regular exercises, and physiotherapy can also be performed. In many cases, the exercises from these therapies can also be done in the patient’s own home, so that the healing process is accelerated somewhat. Surgical intervention may also sometimes be necessary for diastematomyelia. After such an operation, the patient should rest and take care of the body. Effort and physical strain should be avoided at all costs. Care and support from friends and family also have a positive effect on the course of diastematomyelia. As a rule, diastematomyelia does not reduce the life expectancy of the affected person.
What you can do yourself
Diastematomyelia definitely requires a comprehensive medical evaluation. However, sufferers can also do a few things themselves to alleviate the symptoms and ensure a speedy recovery. First of all, physiotherapeutic care should be sought. Physiotherapy can be supported at home by regular movement and individual exercises. Basically, a healthy lifestyle with exercise, a balanced diet and the avoidance of stress is recommended. These measures reduce discomfort and improve well-being and quality of life. Both of these are often limited in diastematomyelia, which can lead to the development of mental suffering later in life. That is why the primary goal of self-therapy is to preserve quality of life while alleviating individual symptoms. If neurological changes occur, it is necessary to talk to the family doctor or a neurologist. Moles and other typical skin changes, if found disturbing, are best addressed by appropriate clothing or cosmetic products. Surgery is also possible, but because of the risks, it should only be done after the more serious symptoms have been treated. Finally, it is important to talk about the disease with relatives, friends or other affected persons. An open approach makes many things easier and often also gives a new perspective on life.
