Torticollis in Connection with Spine Phenotype
Purpose: Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation complex in correlation with torticollis via r...
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| Format: | Article |
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MDPI AG
2022-07-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/7/1672 |
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| author | Ali Al Kaissi Nabil Nassib Sami Bouchoucha Mohammad Shboul Franz Grill Susanne Gerit Kircher Polina Ochirova Sergey Ryabykh |
| author_facet | Ali Al Kaissi Nabil Nassib Sami Bouchoucha Mohammad Shboul Franz Grill Susanne Gerit Kircher Polina Ochirova Sergey Ryabykh |
| author_sort | Ali Al Kaissi |
| collection | DOAJ |
| description | Purpose: Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation complex in correlation with torticollis via radiographic and tomographic analysis and its connection with a specific syndromic entity. Methods: Torticollis has been recognised in six patients (2 boys and 4 girls with an age range of 14–18 years), in addition to a couple of parents manifested persistent backpain. A variable spine malformation complex was the main reason behind torticollis. In addition, some patients manifested plagiocephaly, facial asymmetry and scoliosis/kyphoscoliosis. In some patients, conventional radiographs were of limited value because of the overlapping anatomical structures. Three-dimensional reconstruction CT scanning was the modality of choice, which enlightens the path for the phenotypic characterisation. Results: A 16-year-old-boy presented with torticollis in correlation with pathologic aberration of the spine cartilaginous stage was analysed via 3DCT scan. Comprehensive clinical and radiological phenotypes were in favour of spondylomegepiphyseal dysplasia. The genotype showed a mutation of the NKX3-2 (BAPX1) gene compatible with the diagnosis of spondylo-meg-epiphyseal-metaphyseal dysplasia. His younger male sibling and parents were heterozygous carriers. In two patients with pseudoachondroplasia syndrome, in which odontoid hypoplasia associated with cervical spine synchondrosis causing life-threatening torticollis, Cartilage oligomeric matrix protein (COMP) gene mutation was identified. MURCS syndrome has been diagnosed in two unrelated girls. Torticollis associated with cervical kyphosis was the major presentation since early childhood. Interestingly, one girl showed omovertebral bones of the lower cervical and upper thoracic spine. Her karyotype manifested a balanced translocation of 46 XX, t (14q; 15q). Conclusion: To detect the underlying etiological diagnosis of torticollis, a skeletal survey was the primary diagnostic tool. Conventional radiographs of the craniocervical junction and spine resulted in confusing readings because of the overlapping anatomical structures. Cranio-cervical malformation complex could have serious neurological deficits, especially for children with indefinite diagnosis of torticollis. The widely used term of congenital muscular torticollis resulted in morbid or mortal consequences. Moreover, some patients received vigorous physical therapy on the bases of muscular torticollis. Sadly speaking, this resulted in grave complications. Understanding the imaging phenotype and the genotype in such patients is the baseline tool for precise and proper management. The value of this paper is to sensitise physicians and orthopaedic surgeons to the necessity of comprehensive clinical and radiological phenotypic characterisations in patients with long term skeletal pathology. |
| first_indexed | 2024-03-09T12:00:32Z |
| format | Article |
| id | doaj.art-584d604510c24b56beadf1866f7ef415 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T12:00:32Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-584d604510c24b56beadf1866f7ef4152023-11-30T23:03:38ZengMDPI AGDiagnostics2075-44182022-07-01127167210.3390/diagnostics12071672Torticollis in Connection with Spine PhenotypeAli Al Kaissi0Nabil Nassib1Sami Bouchoucha2Mohammad Shboul3Franz Grill4Susanne Gerit Kircher5Polina Ochirova6Sergey Ryabykh7National Medical Research Center for Traumatology and Ortopedics n.a. G.A. Ilizarov, 640014 Kurgan, RussiaDepartment of Paediatric Orthopedic Surgery, Children Hospital, Tunis 1029, TunisiaDepartment of Paediatric Orthopedic Surgery, Children Hospital, Tunis 1029, TunisiaDepartment of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, JordanPediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, AustriaDepartment of Medical Patho-Chemistry and Genetics, Medical University of Vienna, 1090 Vienna, AustriaNational Medical Research Center for Traumatology and Ortopedics n.a. G.A. Ilizarov, 640014 Kurgan, RussiaNational Medical Research Center for Traumatology and Ortopedics n.a. G.A. Ilizarov, 640014 Kurgan, RussiaPurpose: Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation complex in correlation with torticollis via radiographic and tomographic analysis and its connection with a specific syndromic entity. Methods: Torticollis has been recognised in six patients (2 boys and 4 girls with an age range of 14–18 years), in addition to a couple of parents manifested persistent backpain. A variable spine malformation complex was the main reason behind torticollis. In addition, some patients manifested plagiocephaly, facial asymmetry and scoliosis/kyphoscoliosis. In some patients, conventional radiographs were of limited value because of the overlapping anatomical structures. Three-dimensional reconstruction CT scanning was the modality of choice, which enlightens the path for the phenotypic characterisation. Results: A 16-year-old-boy presented with torticollis in correlation with pathologic aberration of the spine cartilaginous stage was analysed via 3DCT scan. Comprehensive clinical and radiological phenotypes were in favour of spondylomegepiphyseal dysplasia. The genotype showed a mutation of the NKX3-2 (BAPX1) gene compatible with the diagnosis of spondylo-meg-epiphyseal-metaphyseal dysplasia. His younger male sibling and parents were heterozygous carriers. In two patients with pseudoachondroplasia syndrome, in which odontoid hypoplasia associated with cervical spine synchondrosis causing life-threatening torticollis, Cartilage oligomeric matrix protein (COMP) gene mutation was identified. MURCS syndrome has been diagnosed in two unrelated girls. Torticollis associated with cervical kyphosis was the major presentation since early childhood. Interestingly, one girl showed omovertebral bones of the lower cervical and upper thoracic spine. Her karyotype manifested a balanced translocation of 46 XX, t (14q; 15q). Conclusion: To detect the underlying etiological diagnosis of torticollis, a skeletal survey was the primary diagnostic tool. Conventional radiographs of the craniocervical junction and spine resulted in confusing readings because of the overlapping anatomical structures. Cranio-cervical malformation complex could have serious neurological deficits, especially for children with indefinite diagnosis of torticollis. The widely used term of congenital muscular torticollis resulted in morbid or mortal consequences. Moreover, some patients received vigorous physical therapy on the bases of muscular torticollis. Sadly speaking, this resulted in grave complications. Understanding the imaging phenotype and the genotype in such patients is the baseline tool for precise and proper management. The value of this paper is to sensitise physicians and orthopaedic surgeons to the necessity of comprehensive clinical and radiological phenotypic characterisations in patients with long term skeletal pathology.https://www.mdpi.com/2075-4418/12/7/1672torticollisspine phenotyperadiologytomographysyndromic associationgenotype |
| spellingShingle | Ali Al Kaissi Nabil Nassib Sami Bouchoucha Mohammad Shboul Franz Grill Susanne Gerit Kircher Polina Ochirova Sergey Ryabykh Torticollis in Connection with Spine Phenotype Diagnostics torticollis spine phenotype radiology tomography syndromic association genotype |
| title | Torticollis in Connection with Spine Phenotype |
| title_full | Torticollis in Connection with Spine Phenotype |
| title_fullStr | Torticollis in Connection with Spine Phenotype |
| title_full_unstemmed | Torticollis in Connection with Spine Phenotype |
| title_short | Torticollis in Connection with Spine Phenotype |
| title_sort | torticollis in connection with spine phenotype |
| topic | torticollis spine phenotype radiology tomography syndromic association genotype |
| url | https://www.mdpi.com/2075-4418/12/7/1672 |
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