Spinal Complications in Genetic Syndromes – Case Reports
Authors:
M. Jakubíková 1; I. Příhodová 1; M. Barna 2; J. Štulík 2; P. Vaněk 3; V. Beneš; S. Nevšímalová 1
Authors place of work:
Neurologická klinika a Centrum klinických neurověd 1. LF UK a VFN v Praze
1; Spondylochirurgické oddělení III. chirurgické kliniky 1. LF UK a FN v Motole, Praha
2; Neurochirurgická klinika 1. LF UK a ÚVN Praha
3
Published in the journal:
Cesk Slov Neurol N 2011; 74/107(4): 482-485
Category:
Case Report
Summary
Distinct genetic syndromes (achondroplasia, Down’s syndrome) are associated with congenital or degenerative vertebral abnormalities and with involvement of the ligamentous apparatus. In patients with achondroplasia, vertebral deformities may result in spinal stenosis, nerve root compression and development of myelopathy. The most common spinal complication in Down’s syndrome is atlanto-axial instability. This condition is associated with a shift of C1/C2 vertebrae and subsequent compression of dorsal roots, spinal cord and the development of cervical myelopathy. Two case reports of patients with these genetic disorders are presented. Surgical intervention was considered necessary in both of them.
Key words:
achondroplasia – Down´s syndrome – spinal stenosis – atlantoaxial instability – spinal fusion – decompression laminectomy
Zdroje
1. Sciubba D, Noggle J, Marupudi N, Bagley C, Bookland M, Carson B et al. Spinal stenosis surgery in pediatric patients with achondroplasia. J Neurosurgery 2007; 106 (Suppl 5): 372–378.
2. Ain MC, Browne JA. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. Spine 2004; 29(18): 2075–2080.
3. Jeong ST, Song HR, Keny SM, Telang SS, Suh SW, Hong SJ. MRI study of the lumbar spine in achondroplasia: a morphometric analysis for the evaluation of stenosis of the canal. J Bone Point Surg Br 2006; 88(9): 1192–1196.
4. Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS. Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 2006; 104 (Suppl 3): 166–172.
5. Pueschel SM, Scola FH. Epidemiological radiographic and clinical studies of atlantoaxial instability in individuals with Down’s syndrome. Pediatrics 1987; 80: 555–560.
6. Alvarez N, Rubin L. Atlantoaxial instability in adults with down syndrome: a clinical and radiological survey. Applied Research in Mental Retardation 1986; 1(7): 67–78.
7. Baitner AC, Maurer SG, Gruener MB, Di Cesare PE. The genetic basis of the osteochondrodysplasias. J Pediatr Orthop 2000; 20(5): 594–605.
8. Parrot JM. Les malformations achondrodysplasiques. Bulletines de la Société d’antropologie de Paris 1878.
9. Gordon N. The neurological complications of achondroplasia. Brain Dev 2000; 22(1): 3–7.
10. Donath J, Vogl A. Untersuchungen uber den chondrodystrophischen Zwergwuchs. Wien Arch Inn Med 1925; 10: 1–44.
11. Hall JG. The natural history of achondroplasia. Basic Life Sci 1988; 48: 3–9.
12. Spitzer R, Rabinovitch JY, Wyber KC. A study of abnormalities of the skull, teeth and lenses in mongolism. Can Med Assoc J 1961; 84: 567–572.
Štítky
Paediatric neurology Neurosurgery NeurologyČlánok vyšiel v časopise
Czech and Slovak Neurology and Neurosurgery
2011 Číslo 4
- Memantine Eases Daily Life for Patients and Caregivers
- Metamizole at a Glance and in Practice – Effective Non-Opioid Analgesic for All Ages
- Advances in the Treatment of Myasthenia Gravis on the Horizon
- Metamizole vs. Tramadol in Postoperative Analgesia
Najčítanejšie v tomto čísle
- Attention Deficit/Hyperactivity Disorder
- Delayed Acute Subdural Hematoma
- Neurological Complications of Herpes Zoster – a Case Report
- Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene