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Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome

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An Editorial to this article was published on 05 May 2020

Abstract

Mucopolysaccharidosis type IVA, also known as Morquio syndrome, is an autosomal recessive lysosomal storage disease. Skeletal dysplasia with short stature, dysplastic-hypoplastic dens (os odontoideum), ligamentous hyperlaxity, and C1-C2 instability are characteristic features. Most patients with Morquio syndrome present with compressive myelopathy at a young age as a result of a combination of C1-C2 instability and extradural soft tissue thickening; treatment generally consists of anterior decompression with occipito-cervical fusion and external orthosis. In this report, we describe the successful treatment of a young child using posterior C1-C2 fusion alone with a free-hand technique. A 3-year-old boy presented at our hospital with a 5-month history of progressive quadriparesis. A whole-body skeletal survey showed skeletal dysplasia with hypoplasia, thoracolumbar kyphosis, and atlantoaxial subluxation. Preoperative cervical imaging showed compressive myelopathy at C1-C2 and atlantoaxial subluxation. C1-C2 fixation and decompression were performed successfully. After the operation, the patient had improved strength and was able to walk independently 8 months postoperatively. Establishment of stability via C1-C2 fusion is challenging in patients with genetic disorders characterized by skeletal dysplasia because of these young patients’ small bone size and deficient bone quality. In this unique case, the treatment consisted solely of C1-C2 fusion with a free-hand technique. This case report presents a new approach in the treatment of atlantoaxial instability in Morquio syndrome.

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Authors and Affiliations

  1. Department of Neurosurgery, Asan Medical Center, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, South Korea

    EunJi Moon, Subum Lee, Sangjoon Chong & Jin Hoon Park

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  1. EunJi Moon
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  2. Subum Lee
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  3. Sangjoon Chong
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  4. Jin Hoon Park
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Correspondence to Sangjoon Chong or Jin Hoon Park.

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The authors declare no conflict of interest with respect to the materials or methods used in this study or the findings specified in this paper.

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The study protocol was approved by the Institutional Review Board of Asan Medical Center (IRB No. 2019-0879).

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Moon, E., Lee, S., Chong, S. et al. Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome. Childs Nerv Syst 36, 1785–1789 (2020). https://doi.org/10.1007/s00381-020-04561-2

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