Sacral Agenesis.

Pediatr Neurol

Subdirection of Basic Research, Instituto Nacional de Cancerología, Mexico City, Mexico; ABC Medical Center, Mexico City, Mexico. Electronic address:

Published: November 2024

AI Article Synopsis

  • Sacral agenesis (SA) is a rare condition where the sacral spine isn't fully developed, affecting a person's neurological, motor, urinary, and digestive abilities.
  • This review compiles current scientific literature from major medical databases to enhance understanding of SA, covering aspects like causes, symptoms, diagnosis, and treatment options.
  • Most individuals with SA have normal cognitive abilities but need comprehensive care; raising awareness and continuing research about this rare disease is essential for improving patient outcomes.

Article Abstract

Sacral agenesis (SA) is a rare congenital neurological disorder characterized by the incomplete development of the sacral spine. This work summarizes the scientific literature on SA, including the following sections: pathogenesis, epidemiology, risk factors, genetics, clinical manifestations, radiological classification, diagnosis, and management. The aim of this work is to provide the most up-to-date and comprehensive medical narrative literature review for this rare congenital disease. This narrative review used PubMed, MEDLINE, Science Direct, and Embase databases. Between December 2022 and September 2023, the following terms were used for the inclusion of original articles: "rare disease," "caudal regression," "diabetic embryopathy," and "sacral agenesis.? The International Sacral Agenesis/Caudal Regression Association participated in reviewing this manuscript and drafting a paragraph on behalf of those living with this condition. The clinical manifestations of SA are heterogeneous. The most prevalent manifestations involve peripheral neurological, motor, urinary, and digestive issues. The prognosis depends on the severity and associated abnormalities. Patients usually exhibit normal mental function but require a multidisciplinary evaluation and largely supportive treatment that enables them to live successful lives. More awareness and research are needed.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2024.10.020DOI Listing

Publication Analysis

Top Keywords

sacral agenesis
8
rare congenital
8
clinical manifestations
8
sacral
4
agenesis sacral
4
agenesis rare
4
congenital neurological
4
neurological disorder
4
disorder characterized
4
characterized incomplete
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!