Craniocervical instability in an infant with partial sacral agenesis

• Published in: Acta neurochirurgica Vol. 149; no. 6; pp. 623 - 627
• Main Authors: Thiryayi, W A, Alakandy, L M, Leach, P A, Cowie, R A
• Format: Journal Article
• Language: English
• Published: Austria Springer Nature B.V 01-06-2007
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - surgery; Atlanto-Axial Joint - abnormalities; Atlanto-Axial Joint - pathology; Atlanto-Axial Joint - surgery; Bone Transplantation; Cervical Vertebrae - abnormalities; Cervical Vertebrae - pathology; Cervical Vertebrae - surgery; Child, Preschool; Craniofacial Abnormalities - diagnosis; Decompression, Surgical; Female; Follow-Up Studies; Humans; Image Processing, Computer-Assisted; Infant; Joint Dislocations - congenital; Joint Dislocations - diagnosis; Joint Dislocations - surgery; Joint Instability - congenital; Joint Instability - diagnosis; Joint Instability - surgery; Magnetic Resonance Imaging; Nervous System Malformations - diagnosis; Nervous System Malformations - surgery; Occipital Bone - pathology; Occipital Bone - surgery; Odontoid Process - abnormalities; Odontoid Process - pathology; Odontoid Process - surgery; Sacrum - abnormalities; Sacrum - pathology; Spinal Cord Compression - diagnosis; Spinal Cord Compression - surgery; Spinal Fusion; Tomography, X-Ray Computed
• ISSN: 0001-6268; 0942-0940
• DOI: 10.1007/s00701-007-1147-8

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.
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.
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.