Sacral Agenesis

Area of Science:

• Neurology
• Genetics
• Developmental Biology

Background:

• Sacral agenesis (SA) is a rare congenital neurological disorder.
• It involves the incomplete development of the sacral spine.
• Clinical manifestations are diverse, often including neurological, motor, and organ-specific issues.

Purpose of the Study:

• To provide an up-to-date and comprehensive literature review on sacral agenesis.
• To cover pathogenesis, epidemiology, risk factors, genetics, clinical features, diagnosis, and management.
• To consolidate current medical knowledge for this rare condition.

Main Methods:

• A narrative literature review was conducted.
• Databases searched include PubMed, MEDLINE, Science Direct, and Embase.
• Search terms included 'rare disease,' 'caudal regression,' 'diabetic embryopathy,' and 'sacral agenesis' from December 2022 to September 2023.

Main Results:

• SA presents with heterogeneous clinical manifestations, primarily affecting peripheral nerves, motor function, urinary, and digestive systems.
• Prognosis is linked to the severity of SA and associated abnormalities.
• Patients typically maintain normal cognitive function, requiring multidisciplinary support.

Conclusions:

• Sacral agenesis management requires a multidisciplinary approach.
• Supportive care enables patients to lead successful lives.
• Increased awareness and further research are crucial for improving outcomes in SA.