Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome
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CASE REPORT
Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome EunJi Moon 1 & Subum Lee 1 & Sangjoon Chong 1 & Jin Hoon Park 1 Received: 29 November 2019 / Accepted: 27 February 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 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. Keywords Morquio syndrome . Atlantoaxial instability . C1-C2 fusion . Posterior fusion . Free-hand technique . Cervical pedicle screw
Background Mucopolysaccharidosis type IVA, also known as Morquio syndrome, is an autosomal recessive lysosomal storage disease. Mucopolysaccharidosis type IVA is caused by decreased activity of the mutated N-acetyl-galactosamine-6-sulphatase (GALNS) gene and progressive intracellular accumulation of keratan sulphate and chondroitin-6-sulphate [1–3]. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00381-020-04561-2) contains supplementary material, which is available to authorized users. * Sangjoon Chong [email protected] * Jin Hoon Park [email protected] 1
Department of Neurosurgery, Asan Medical Center, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, South Korea
Generalized skeletal dysplasia and ligamentous hyperlaxity are characteristic features in Morquio syndrome. Also, the anterior extradural soft tissue formation is usually reactive ligamentous tissue with or without abnormal deposition of mucopolysaccharides [4]. Conseque
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