L'esperienza che insegna
Trisomia e torcicollo
Down syndrome and torticollis
Sara Lega1, Marco Carbone2, Gianpaolo Chiaffoni3
1Clinica Pediatrica, IRCCS Materno-Infantile “Burlo Garofolo”, Università di Trieste
2SC di Ortopedia Pediatrica, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
3UO di Pediatria, PO di Conegliano e Vittorio Veneto, ULSS 7 Regione Veneto
Febbraio 2015 - pagg. 111 -114
Abstract
Up to 15% of children with Down syndrome have atlanto-axial instability (AAI) due to constitutional
ligament hyperlaxity. Symptomatic disease occurs in 3% of patients: most frequently
neurological symptoms of spinal cord compression slowly progress over time but complications
from vertebral dislocation can manifest with sudden painful torticollis. While
asymptomatic cases require no intervention, symptomatic cases are at risk for irreversible neurological
damage and require prompt recognition and surgical stabilization of cervical spine.
The paper describes the case of a 10-year-old girl with Down syndrome and AAI who
presented with painful torticollis caused by rotatory dislocation of C1-C2. Torticollis was initially
misdiagnosed as myogenic. Vertebral dislocation was recognized one month after the
onset of symptoms and appropriately managed with surgical stabilization of cervical spine.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Contenuto riservato
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Bibliografia
1 . Ghanem I, El Hage S, Rachkidi R, Kharrat
K, Dagher F, Kreichati G. Pediatric cervical
spine instability. J Child Orthop 2008;2(2):71-
84.
2. Hankinson TC, Anderson RC. Craniovertebral
junction abnormalities in Down syndrome.
Neurosurgery 2010;66(3 Suppl):32-8.
3. Menezes AH, Ryken TC. Craniovertebral
abnormalities in Down’s syndrome. Pediatr
Neurosurg 1992;18(1):24-33.
4. Taggard DA, Menezes AH, Ryken TC.
Treatment of Down syndrome-associated craniovertebral
junction abnormalities. J Neurosurg
2000;93(2 Suppl):205-13.
5. Pueschel SM, Scola FH. Atlantoaxial instability
in individuals with Down syndrome: epidemiologic,
radiographic, and clinical studies.
Pediatrics 1987;80(4):555-60.
6. Pueschel SM, Scola FH, Pezzullo JC. A longitudinal
study of atlanto-dens relationships in
asymptomatic individuals with Down syndrome.
Pediatrics 1992;89(6 Pt 2):1194-8.
7. Dedlow ER, Siddiqi S, Fillipps DJ, Kelly
MN, Nackashi JA, Tuli SY. Symptomatic atlantoaxial
instability in an adolescent with trisomy
21 (Down’s syndrome). Clin Pediatr
(Phila) 2013;52(7):633-8.
8. Bull MJ; Committee on Genetics. Health
supervision for children with Down syndrome.
Pediatrics 2011;128(2):393-406.
9. McKay SD, Al-Omari A, Tomlinson LA, Dormans
JP. Review of cervical spine anomalies
in genetic syndromes. Spine (Phila Pa 1976)
2012;37(5):E269-77.
10. Pizzutillo PD, Herman MJ. Cervical spine
issues in Down syndrome. J Pediatr Orthop
2005;25(2):253-9.
11. Hankinson TC, Anderson RC. Craniovertebral
junction abnormalities in Down syndrome.
Neurosurgery 2010;66(3 Suppl):32-8.
12. Anderson RC, Ragel BT, Mocco J, Bohman
LE, Brockmeyer DL. Selection of a rigid internal
fixation construct for stabilization at the
craniovertebral junction in pediatric patients.
J Neurosurg 2007;107(1 Suppl):36-42.
13. Haque A, Price AV, Sklar FH, Swift DM,
Weprin BE, Sacco DJ. Screw fixation of the upper
cervical spine in the pediatric population.
Clinical article. J Neurosurg Pediatr 2009;3
(6):529-33.
14. Hwang SW, Gressot LV, Rangel-Castilla L,
et al. Outcomes of instrumented fusion in the
pediatric cervical spine. J Neurosurg Spine
2012;17(5):397-409.
15. Il trattamento ortopedico nei pazienti con
sindrome di Down: instabilità atlanto-assiale.
www.iss.it/binary/lgmr/cont/A16.118190965
5.pdf.
16. Morton R, Khan C, Murray-Leslie C, Elliott
S. Atlantoaxial instability in Down’s syndrome:
a five year follow-up study. Arch Dis
Child 1995;72(2):115-9.
17. Burke SW, French HG, Roberts JM, Johnston
CE, Whitecloud TS, Edmunds JO. Chronic
atlanto-axial instability in Down syndrome.
J Bone Joint Surg Am 1985;67(9):1356-60.
18. Roy M. Atlantoaxial instability in Down
syndrome: guidelines for screening and detection.
J R Soc Med 1990;83(7):433-5.
19. Cremers MJ, Bol E, de Roos F, van Gijn J.
Risk of sports activities in children with
Down’s syndrome and atlantoaxial instability.
Lancet 1993;342(8870):511-4.
Corrispondenza: saralega83@gmail.com