Demystifying Sacral Defect with Anterior Meningocele: Diagnosis and Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Sacral defect with anterior meningocele (SDAM) is a rare congenital disorder that affects the spine. It is characterized by the presence of a fluid-filled sac, known as a meningocele, in the lower back region. This condition can lead to a range of symptoms and complications, including urinary and gastrointestinal issues. With the help of advanced diagnostic techniques and genetic testing, it is now possible to better understand and manage SDAM. This article aims to provide an overview of the condition, its diagnosis, and the role of genetic testing in managing this complex disorder.

Understanding Sacral Defect with Anterior Meningocele

SDAM is a rare form of spinal dysraphism, which refers to a group of congenital abnormalities affecting the development of the spine. In individuals with SDAM, the meningocele forms in the anterior (front) part of the sacrum, which is the large, triangular bone at the base of the spine. This meningocele can cause compression of nearby structures, such as the ureters, leading to urinary and gastrointestinal symptoms, as well as potential renal injury (1).

Diagnosing Sacral Defect with Anterior Meningocele

The diagnosis of SDAM can be challenging, as the symptoms can be vague and varied. In some cases, patients may present with recurrent urinary tract infections, polyuria (excessive urination), and renal injury (1). In other cases, the symptoms may be predominantly gastrointestinal, such as constipation, abdominal pain, and bloating (2).

Magnetic resonance imaging (MRI) is the gold standard for diagnosing SDAM. This imaging technique can reveal the presence and extent of the meningocele, as well as any associated spinal abnormalities, such as tethered spinal cord or syringomyelia (4). In some cases, computed tomography (CT) scans may also be used to provide additional information about the bony structures of the spine.

Genetic Testing for Sacral Defect with Anterior Meningocele

While the exact cause of SDAM is not well understood, it is believed that genetic factors may play a role in its development. Genetic testing can be helpful in identifying potential genetic causes of the condition, as well as in guiding treatment and management decisions.

Identifying Genetic Predispositions

Some cases of SDAM have been reported in individuals with known genetic syndromes, such as Marfan syndrome (1). Genetic testing can be used to identify the presence of such syndromes, which may help to explain the development of SDAM in certain patients. Additionally, genetic testing can provide information about the potential risk of the condition occurring in other family members.

Guiding Treatment Decisions

Genetic testing can also be useful in guiding the treatment of SDAM. In some cases, the presence of a specific genetic syndrome may influence the choice of surgical approach or the need for additional interventions. For example, patients with Marfan syndrome may require more extensive surgical repair due to the increased risk of complications related to the connective tissue disorder (1).

Monitoring for Associated Conditions

Finally, genetic testing can be helpful in monitoring for the development of associated conditions in patients with SDAM. For example, individuals with Marfan syndrome are at an increased risk of developing cardiovascular complications, such as aortic aneurysms. Regular monitoring and early intervention can help to reduce the risk of serious complications in these patients.

Conclusion

Sacral defect with anterior meningocele is a rare and complex spinal disorder that can lead to a range of urinary and gastrointestinal symptoms. Advances in diagnostic techniques, such as MRI, have improved the ability to accurately diagnose and manage this condition. Genetic testing can provide valuable information about the potential causes of SDAM, guide treatment decisions, and help to monitor for associated conditions. As our understanding of the genetic factors involved in SDAM continues to grow, it is hoped that this knowledge will lead to improved treatment options and outcomes for affected individuals.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)