Caudal regression syndrome characterizes a malformation syndrome of the lower (caudal) spinal segments, sometimes with a very severe but variable appearance. In many cases, sections of the caudal spine such as the coccyx and areas of the lumbar spine are missing. The condition is multifactorial and usually develops within the first four weeks of pregnancy.
What is caudal regression syndrome?
Caudal regression syndrome is a very rare condition that affects the lower spinal segments. In some cases, very significant deformities occur in various sections of the spine and other areas of the body. In some cases, entire spinal segments are missing from the sacrum and coccyx. Literally translated, the Latin term “caudal regression syndrome” means “regression in the lower regions.” Although the condition is congenital, it is probably not usually genetic. Multifactorial triggers of this syndrome are thought to be involved. However, genetic involvement has not been completely ruled out in some cases. The term sacral agenesis is also used synonymously. This term is derived from the Latin term “sacrum” for “sacral bone” and “agenesis” for the word “absence”. So the disease can also be called missing sacrum. It happens that sometimes a piece of the lumbar spine is also missing in the cranial direction. Caudal regression syndrome may also be a collective term for severe developmental disorders and malformations affecting the lower spine. The condition is reported to have a prevalence of 1 in 25,000 to 1 in 60,000 of all newborns. Other publications also discuss prevalences of 1 in 50,000 to 1 in 100,000 of newborns. Familial clustering does not occur. Therefore, multifactorial causes are assumed.
Causes
The causes of caudal regression syndrome are not known. A multifactorial event is suspected. For example, the condition has been found to occur frequently in children of diabetic women. The time of onset is thought to be between the third and seventh week of pregnancy. Thus, a developmental disorder of the mesoderm is supposed to be present. The influence of reduced blood flow in the inner vessels is also being discussed as a cause of the development of this disease. However, there may also be a genetic predisposition to this disease. Studies have shown that there may be a connection between various mutations in the VANGL1 gene and the occurrence of this disease. However, the disease usually occurs sporadically and shows a strong association with maternal diabetes.
Symptoms, complaints, and signs
Caudal regression syndrome is characterized by complex symptomatology. The disease presents in a highly variable fashion. Partial agenesia may occur in the lower portions of the spine. Agenesis refers to the absence of certain sections or organs. Thus, in some cases, the coccyx is completely absent or very atrophied. In more severe cases, the sacrum may also be missing. In some cases, severe pelvic deformities also exist. Typically, the two pelvic scoops may be fused, with anal atresia (anal malformation) present. The anal outlet is often not present and must be created by an artificial bowel outlet. Furthermore, there is also often a deformity of the lower limbs. Often there is flexion of the knees. Furthermore, the clinical picture is characterized by varying degrees of neurological and motor deficits. Tendon reflexes of the lower limbs are decreased and motor activities occur spontaneously. The genitourinary system, digestive system, and respiratory system may also be involved. Abnormalities often occur in these areas. In the genitourinary system, bilateral renal agenesias, displaced kidneys, or fused ureters may be present. In renal agenesis, the kidneys are missing. This is incompatible with life. The other malformations can cause urinary tract obstruction and eventual reflux of urine from the urinary tract into the bladder. The gastrointestinal malformations result in the patient’s inability to control bowel movements. The result is incontinence. However, as mentioned earlier, the anus may also completely obstruct the bowel outlet.In addition, heart defects also frequently occur. There is a presumption that the malformations occur before the fourth week of pregnancy.
Diagnosis and course of the disease
The diagnosis of caudal regression syndrome is made during pregnancy by ultrasound examinations. The most severe deformities are usually detected in the first trimester of pregnancy. After birth, MRI examinations determine the extent of the deformities. Differential diagnosis must exclude sirenomelia and Currarino syndrome. In sirenomelia, the lower extremities are fused together, and in Currarino syndrome, there are additional space-occupying lesions anterior to the sacrum. In addition, Currarino syndrome is inherited according to an autosomal dominant mode of inheritance.
Complications
This syndrome usually results in severe malformations and complications. It is not uncommon for affected individuals to be missing various organs, which can further result in death or a very limited life. In most cases, an artificial bowel outlet is also necessary so that the patient can continue to survive. Likewise, it is not uncommon for deformity of the various limbs to occur, so that various limitations can occur in the daily life of the affected person. The kidneys can also be affected by this syndrome, so that the affected person suffers from incontinence or is even dependent on a transplant. Furthermore, many affected persons suffer from heart defects, which can lead to a severe limitation of life expectancy. It is not uncommon for parents or relatives to experience severe psychological distress, so that they are usually dependent on psychological treatment. In the treatment of this syndrome, only the symptoms can be limited. In this case, the treatments are carried out by different doctors, but usually there are no particular complications. However, not all symptoms can be limited. The child’s mental development is usually unaffected by the syndrome.
When should one go to the doctor?
An expectant mother is strongly advised to attend all preventive and check-up examinations during pregnancy. Within the routine examinations that take place to assess the health of the child, imaging techniques are used that reveal typical symptoms of caudal regression syndrome. The severe deformities and abnormalities of the lower back are noticeable within the first weeks of pregnancy in the womb. The deformities of the coccyx or lumbar spine lead to further examinations during the coming weeks, so that a diagnosis can already be made in this prenatal phase. The exact extent of the physical changes is determined after birth in various examinations. Since the first abnormalities are normally already documented in the womb, a planned inpatient birth is recommended. Immediately after the birth, obstetricians and trained physicians perform the necessary examinations and take care of the initial care of the newborn. Should a sudden birth occur, an emergency medical service should be alerted so that mother and child can receive adequate medical care as quickly as possible. If, in addition to the malformations, there are also disorders of the digestive tract, a doctor must be consulted. If psychological, emotional or mental abnormalities occur in the further course of the child’s development, it is advisable to seek the supportive help of a doctor or therapist.
Treatment and therapy
Treatment depends on the existing abnormalities. Because the symptoms are complex, therapy requires interdisciplinary collaboration among various specialties. These include urologists, nephrologists, neurosurgeons, psychologists, and occupational therapists. The urologic disorders must be corrected with surgical interventions or with the administration of anticholinergic drugs. In the case of anus imperforatus, it is necessary to place an artificial anus. Orthopedic surgery must also be performed depending on the severity of symptoms. Overall, treatment can only be symptomatic. Irreversible changes already exist and cannot be reversed. The prognosis of caudal regression syndrome is often unfavorable.In severe cases, children die shortly after birth. However, surviving children show normal mental functioning.
Outlook and prognosis
The prognosis of caudal regression syndrome depends on the severity of the condition. However, a cure is not possible because of the cause. During the first weeks of pregnancy, changes in the skeletal system occur in the developmental process of the child. These cannot be completely corrected after birth. Although the malformations of the spine in this syndrome are manifold, there are various options that can help to improve the situation. Surgical interventions, physiotherapeutic measures as well as the support of psychologists can lead to a significant improvement in health. Nevertheless, surgery is fundamentally associated with risks. The sooner therapy is taken up, the better the results in most cases. Due to the physical impairments and the stress of the disease, a lowered sense of well-being can be observed in a large number of patients. The disorder is challenging for the affected individual as well as their loved ones. The vulnerability for psychological secondary disorders is increased as a result. If the help and support of a psychologist is refused, a worsening of the overall situation is to be expected. In most cases, the mother of the child must also undergo therapy. It could be observed that there is an improvement for all parties involved if both mother and child receive medical care.
Prevention
Prevention of caudal regression syndrome is not possible. The causes are unknown, and cases usually occur sporadically.
Follow-up
In general, the measures of direct follow-up are very limited in this syndrome. In many cases, they are not even available to the affected person, since this is a hereditary disease that also cannot be completely cured. For this reason, genetic testing and counseling should always be performed in the event of a desire to have children, so that the syndrome does not reoccur in the descendants. The earlier a diagnosis is made, the better the further course of the disease usually is. The treatment of this hereditary disease is carried out by the intervention of various specialists, and those affected are dependent on the help and support of their own family in their daily lives. In particular, intensive discussions with the affected person are necessary to prevent psychological upsets or depression in the patient. Children need special support due to the disease, so that they can later experience normal development at school. In some cases, this syndrome reduces the life expectancy of the affected person, and the further course depends very much on the time of diagnosis of the disease.
What you can do yourself
With caudal regression syndrome, the options for self-help are very limited for the newborn patient. A team of different physicians provides therapy and care for the affected individual, who suffers from a variety of deformities. The anomalies are sometimes visible externally and also usually affect internal organs, although the clinical picture of the syndrome differs for each patient. Medical treatment is essential for the survival of the patient. Therefore, caregivers adhere to all care instructions and attend all appointments in a timely manner. Some of the patients die from the severe deformities. Generally, the life expectancy of affected individuals is based on the particular anomalies and treatment success. If patients reach adolescence or adulthood, special schools and care facilities are available for the education and social integration of the patients. This makes it possible for patients to achieve a higher quality of life. However, regular check-ups and treatment appointments with various specialists are necessary throughout life. Patients usually undergo several operations and may have to wear prostheses or an artificial bowel outlet. Psychotherapeutic support for the patient’s parents is recommended to help them cope with the disease.
