Related Experiment Video
Updated: Jul 14, 2026
A Novel Vertebral Stabilization Method for Producing Contusive Spinal Cord Injury
Published on: January 5, 2015
Craniocervical instability in an infant with partial sacral agenesis
W A Thiryayi1, L M Alakandy, P A Leach
1Department of Neurosurgery, Royal Manchester Children's Hospital, Manchester, UK.
Insights
Sacral agenesis, a rare condition, can present with craniocervical junction abnormalities. This case highlights the challenges in managing craniocervical instability in young children with this rare association.
Area of Science:
- Pediatric Orthopedics
- Neurology
- Genetics
Background:
- Sacral agenesis is a rare congenital anomaly.
- Craniocervical junction abnormalities are seldom associated with sacral agenesis.
Observation:
- A 3-year-old girl presented with short stature and was diagnosed with partial sacral agenesis.
- She also exhibited significant craniocervical instability with odontoid peg anomalies.
Findings:
- Genetic testing revealed a normal karyotype.
- Conservative management with a cervical orthosis was initially employed.
- Neurological morbidity necessitated surgical decompression and stabilization at age three.
Implications:
- This case underscores the extreme rarity of combined sacral agenesis and craniocervical instability.
- Optimal surgical strategies for young children with this rare association present significant challenges.
Unlabelled:
Sacral agenesis is an uncommon condition characterised by total or partial absence of the sacrum. The association of this condition with craniocervical junction abnormalities is extremely rare.
Case Report:
We describe a 3-year-old girl who, at the age of 8 months, while being investigated for short stature, was found to have significant craniocervical instability associated with anomalies of the odontoid peg. In addition to this she had partial sacral agenesis but genetic tests showed a normal karyotype. Due to the inherent difficulty of surgical fixation and immobilisation in an infant of her age, she was managed conservatively in a soft cervical orthosis. At the age of three years, surgery for decompression and stabilisation was deemed necessary due to the onset of neurological morbidity.
Conclusion:
The authors describe this extremely rare association and discuss the difficulties faced while deciding the optimum surgical strategy for managing such young children with craniocervical instability.
Related Concept Videos
01:30Neurulation
01:29Herniated Intervertebral Disc l: Introduction
01:25Secondary Spinal Cord Injury llI: Pathophysiology
01:16Vertebral Column: Regions and Curvature
Regions of the Vertebral Column
In an adult, the spine is subdivided into five regions: the cervical, the thoracic, the lumbar, the sacral, and the coccygeal region. The spine initially develops as a series of 33 vertebrae; after 20 years of age, the nine bones in the sacral region, five sacral, and four coccygeal bones fuse to form the...