Sarenur GÖKBEN, Gül SERDAROĞLU, Hasan TEKGÜL, Taşkın YURTSEVEN, Yusuf ERŞAHİN

Atlantoaxial instability in Down's syndrome: A case report

Down Sendromu (DS) en sık rastlanılan kromozom anomalisi olup, çeşitli sistemlerde oluşan anomalilerle birliktedir. Mental retardasyon, endokrinolojik ve kardiyolojik anomaliler pediatristler tarafından iyi bilinmekte ve izlenmektedir, ancak servikal spin anomalilerine daha az sıklıkla rastlanılır. Atlanto-odontoid mesafenin genişlemesi ve atlantooksipital instabilite DS'lu hastaların %20-60'ında görülmektedir. Hastaların çoğunda nörolojik semptomlar akut travma veya anestezi sonrasında ortaya çıkar.Bu yazıda spontan olarak akut güçsüzlük ve kuadriparezi gelişen 16 yaşında DS'lu bir kız olgu sunulmuştur.

Anahtar Kelimeler:

Eklem instabilitesi, Kas zayıflığı, Atlanto-aksiyel eklem, Down sendromu, Kuadripleji

Down sendromunda atlantoaksiyal instabilite: Olgu sunumu

Down Syndrome (DS) is the most common chromosomal disorder in humans and presents abnormalities in several organ systems. Mental retardation, endocrinologic and cardiologic abnormalities are well recognized by pediatricians, but various cervical spine abnormalities are less appreciated. Widening of the atlanto-odontoid distance and atlantooccipital instability occur in up to 20% and 60% of DS patients. Most of the patients develop neurologic symptoms after acute trauma or anaesthesia. In this report 16 year old girl with DS who spontaneously had acute weakness and quadriparesis is presented.

Keywords:

Joint Instability, Muscle Weakness, Atlanto-Axial Joint, Down Syndrome, Quadriplegia,

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1. Frost M, Huffer WE, Sze CI, Badesch D, Cajade-Law AG, Kleinschmidt-DeMasters BK. Cervical spine abnormalities in Down syndrome. Clin Neuropathol 1999;18:250-9. 2. Pueschal SM, Scola FH, Tapper TB, Pezzulo JC. Skeletal anomalies of the upper cervical spine in children with Down syndrome. J Pediatr Orthop 1990;10:607 3. Trumble ER, Myseros JS, Smoker WR, Ward JD, Mickell JJ. Atlantooccipital subluxation in a neonate with Down’s syndrome. Case report and review of the literature. Pediatr Neurosurg 1994;21:55-8. 4. Tseng SH, Cheng Y. Occiput–cervical fusion for symptomatic atlantoaxial subluxation in a 32-month-old child with Down syndrome:a case report. Spinal Cord 1998;36:520-2 5. Harley EH, Collins MD. Neurologic sequelae secondary to atlantoaxial instability in Down syndrome. Implications in otolaryngologic surgery. Arch Otolaryngol Head Neck Surg 1994;120:159-65. 6. Cremers MJ, Bol E, de Ross F, van Gijn J. Risk of sports activities in children with Down ‘s syndrome and atlantoaxial instability. Lancet 1993;342:511-4. 7. Taylor TK, Walter WL. Screening of children with Down syndrome for atlantoaxial(C1-2) instability:another contentious health question. Med J Aust 2002;176:402-3. 8. Taggard DA, Menezes AH, Ryken TC. Treatment of Down syndrome-associated craniovertebral junction abnormalities. J Neurosurg 2000;93:205-13. 9. Morton RE, Khan MA, Murray-Leslie C, Elliott S. Atlantoaxial instability in Down’s syndrome:a five year follow up study. Arch Dis Child 1995;72:115-8.