Sacral agenesis is a rare condition causing spinal deformities in newborns, with hereditary factors being the main cause. Lack of certain vital nutrients during pregnancy may be a factor. Prognosis varies, with some children living normal lives with surgery and physical therapy, while others may be confined to a wheelchair. To prevent the condition, women of childbearing age are encouraged to take a daily multivitamin containing folic acid.
Sacral agenesis is a rare and poorly understood condition that causes spinal deformities. This condition occurs in only about one in every 25,000 live births. Researchers believe that this abnormality occurs sometime between the third and seventh week of fetal development due to a factor or set of factors that disrupt the migration of the mesoderm.
Those born with sacral agenesis may suffer from small lesions on the lower spine or more serious effects, including fusion of the lower extremities. While the exact reason why this occurs is not known, it is speculated that a lack of certain vital nutrients during pregnancy may be a factor. For example, taking folic acid in sufficient amounts can help prevent this and other spinal defects in newborns.
The links between sacral agenesis and lack of nutrients, along with other environmental factors, are tenuous at best. Some indicators point to maternal diabetes as a possible risk factor, but no specific environmental cause has been conclusively linked. Most cases of sacral agenesis are caused by hereditary factors. Hereditary causes, also called Currarino syndrome, are thought to be caused by mutations in certain genes.
There are four main types of sacral agenesis, some more serious than others. The first involves the partial formation of the sacred. This means that part of the lower back is developed, but some components are missing. Another type is sacrum deformation and the two additional types result in total failure of sacrum formation.
Because there are varying degrees of severity in sacrum agenesis, the prognosis is equally varied. Some children can go on to live normal lives with surgery combined with physical therapy. Others may have completely malformed legs and hips, making it impossible to walk or even crawl. These children will likely be confined to a wheelchair. Sometimes the lower limbs are also removed.
In some very severe cases, bladder and bowel functions are inhibited. This may require the use of permanent colostomy to prevent bowel incontinence and catheterization for urine passage. Despite these limitations, the prognosis is improving for these patients as more efficient surgeries and physical therapies are developed; along with wheelchairs and more technologically advanced mobility aids.
To prevent sacral agenesis, all women of childbearing age are encouraged to take a daily multivitamin that contains folic acid. Maintaining a healthy diet and lifestyle is also helpful in preventing the onset of type two diabetes. Quality prenatal care is also important so that health care providers can spot any abnormalities and treatment options can be made available at the time of birth.
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