Sacral Regression Syndrome: Causes, Symptoms, Treatment, Diagnosis

Sacral Regression Syndrome is a pathological condition in which the lower part of the body is underdeveloped at the time of birth of the child. The areas that are most affected by Sacral Regression Syndrome are the lower back, the lower extremities, the genitourinary tract, and the gastrointestinal tract.

Sacral Regression Syndrome also results in the bones of the lower half of the spine either completely missing or totally misshapen which results in incomplete closure of the vertebrae around the spinal cord. People with Sacral Regression Syndrome also tend to have significant scoliosis with a very prominent curvature of the spine.

These abnormalities in the spinal cord may lead to an abnormally shaped chest which can create problems with breathing for the affected individual. Also, individuals with Sacral Regression Syndrome tend to have very small hip bones and have extremely limited range of motion of the hip.

Additionally, the bones of the lower extremities, especially the femur is also extremely underdeveloped and also the legs may be bent such as in a frog like position. Individuals with Sacral Regression Syndrome also tend to have club feet making ambulation extremely difficult for them.

There is also sensation loss in the lower extremities in individuals with Sacral Regression Syndrome. Individuals with Sacral Regression Syndrome also have malformed kidneys or even in some cases the kidney may be missing altogether or both kidneys may be fused together. All these abnormalities predispose the individual to frequent urinary infections and difficulty in controlling bladder.

There is also underdevelopment of the genital area in individuals with Sacral Regression Syndrome. Additionally, individuals with Sacral Regression Syndrome tend to have malrotation of the intestines leading to various gastrointestinal complications as well such as frequent constipation and not being able to control bowel movement leading to frequent bowel incontinence.

The root cause of Sacral Regression Syndrome is still a matter of investigation as the exact cause is still unknown. Researchers have come up with a few theories as to how this condition may develop. They believe that genetics plays a key role in the development of Sacral Regression Syndrome.

In addition, certain environmental factors may also play a role in development of Sacral Regression Syndrome. Maternal diabetes has been identified as one of the most prominent risk factor for development of Sacral Regression Syndrome, as this condition tends to occur more in females with diabetes during pregnancy than the general population.

Some of the environmental factors that tend to play a role in development of Sacral Regression Syndrome are consumption of alcohol during pregnancy, hypoxia, consumption of retinoic acid and the like. Amino acid imbalance is also one of the factors responsible for development of Sacral Regression Syndrome.

The symptoms demonstrated by an individual with Sacral Regression Syndrome can vary from one person to another. Some symptoms may be very mild and not affect the quality of life of the affected individual whereas some of the symptoms may be extremely severe and may be even potentially life threatening.

The classic presenting feature of Sacral Regression Syndrome is the abnormality present in the lumbar spine and the deformities of the lower extremities. Extreme narrowing of the hips is also one of the symptoms of Sacral Regression Syndrome. Bowel and bladder incontinence is also one of the most prominent symptoms of Sacral Regression Syndrome.

Additionally, increased urinary frequency and failure to completely empty the bladder is also one of the symptoms of Sacral Regression Syndrome. Due to Sacral Regression Syndrome, there may be significant nerve damage especially to the lower extremities and lead to abnormalities like flexion contractures of the hip and knee.

Ambulation is significantly difficult for individuals with Sacral Regression Syndrome due to nerve damage and the ensuing deformities of the lower extremities. Again, these symptoms are extremely variable where some individuals may be able to ambulate whereas some may require crutch or other assistive walking devices to ambulate.

Sacral Regression Syndrome patients tend to also have renal abnormalities along with abnormalities of the face like a cleft lip and a cleft palate along with a condition called imperforate anus.

The renal abnormalities due to Sacral Regression Syndrome may cause urinary obstruction, predisposition to frequent urinary infections, neurogenic bladder, and vesicoureteral reflux which are all condition which will require close observation or else may have serious consequences as a result of Sacral Regression Syndrome.

A fetal ultrasound before the birth of the child may be good enough to inform the parents that the child to be born has Sacral Regression Syndrome. Once the child is born, to confirm the diagnosis of Sacral Regression Syndrome radiological studies in the form of MRI and CT scan may be done to look at the developmental status of the spine and kidneys, and whether any abnormalities known in Sacral Regression Syndrome are present or not. Once these studies are done and the findings are symbolic of those found in Sacral Regression Syndrome then a diagnosis is confirmed.

The treatment for Sacral Regression Syndrome is aimed at treating the symptoms that are prominent in the patient. Thus, treatment for Sacral Regression Syndrome may differ from individual to individual. The treatment requires a multidisciplinary approach and requires inputs from pediatricians, neurosurgeons, urologists, orthopedists, nephrologists, and neurologists. With the help of all these specialties a definitive treatment plan may be formulated which will best suit the patient to give him or her a good quality of life with little to no symptoms.

There may be many surgical procedures that may be required for treatment of Sacral Regression Syndrome such as if there are fused kidneys then to remove them will require a complex surgical procedure.

Similarly, surgical procedures will be required to treat the various spinal and other orthopedic abnormalities that the patient will have due to Sacral Regression Syndrome.

The patient may also be given medications to treat urinary infections and other abnormalities of the urological system as a result of Sacral Regression Syndrome.

It should be noted that early detection and treatment of Sacral Regression Syndrome has the most chances of success. Additionally, physical therapy and occupational therapy may also be of help for Sacral Regression Syndrome Patients.