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We have read with interest the excellent review of Down syndrome by Sergeenko et al. [1], in which they bring to attention the frequent occurrence of atlantoaxial instability (AAI) in Down syndrome (DS), the importance of directed radiological assessment, and the association of AAI with os odontoideum, ligamentous laxity, low bone mineral density, low muscle tone, and excessive joint flexibility.
We would like to draw a parallel with another set of genetic disorders, which are characterized by ligamentous laxity, excessive joint laxity, and frequently, low bone density and also have a higher than expected risk of AAI: the hereditary connective tissue disorders (HCTD), including Ehlers-Danlos, Loeys-Dietz, Marfan, and Morquio syndromes [2].
In both DS and the HCTD, the clinical diagnosis of AAI can be challenging because of the many comorbid conditions and the musculoskeletal symptoms caused by the generalized joint hypermobility. In both DS and the HCTD, AAI usually manifests in childhood and adolescence (when there is greatest ligamentous laxity) or following minor trauma, and neurological deterioration then occurs over several years. In DS, AAI may cause quadriparesis or quadriplegia with neck flexion, whereas in HCTD, AAI causes severe headache, visual symptoms, syncope or pre-syncope, dysesthesias, nausea and tinnitus, hyperreflexia, and sensory changes due to rotational instability between C1 and C2 [3, 4].
In DS, screening for AAI has not been reliable, and imaging studies do not correlate well with the risk of myelopathy. Similarly, standard imaging studies fail to show the rotational instability in the HCTD. In these conditions, diagnosis of AAI requires dynamic imaging. In DS, AAI results from incompetence of the transverse odontoid ligament, demonstrated by flexion and extension imaging of the cervical spine (Fig. 1). In HCTD, AAI is caused by incompetence of the alar ligaments, demonstrated on rotational CT by excessive angular displacement between the atlas and the axis (Fig. 2) or by excessive translation on lateral tilt of the neck [4, 5].
Symptoms of the cervical medullary syndrome and tenderness over the C1–C2 joint should prompt suspicion of AAI. Directed neurological exam and imaging are necessary to diagnose clinically significant AAI in these populations [2, 4]. We concur with Sergeenko et al. that posterior stabilization and fusion are reserved only for patients who fail a thorough course of non-operative management.
References
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Henderson FC Sr, Austin C, Benzel E et al (2017) Neurological and spinal manifestations of the Ehlers-Danlos syndromes. Am J Med Genet C: Semin Med Genet 175(1):195–211
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Henderson, F.C., Francomano, C.A. & Rowe, P.C. Letter to the editor regarding “Atlantoaxial dislocation due to os odontoideum in patients with Down’s syndrome: literature review and case reports”. Childs Nerv Syst 37, 1041–1043 (2021). https://doi.org/10.1007/s00381-020-04886-y
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DOI: https://doi.org/10.1007/s00381-020-04886-y