Review
IMAGES IN PAEDIATRICS
Persistent neck pain in a girl: Klippel-Feil syndrome A 4-year-old girl was referred for recurrent neck pain. On examination, she was noted to have a short neck with very limited range of motion and a low-set posterior hairline. Suspecting Klippel-Feil Syndrome (KFS), X-rays (figure 1A and B) and CT (figure 1C and D) with three-dimensional reconstruction (see
online supplementary video 1) were performed and a complex malformation of the cervical spine and craniocervical junction was detected. KFS (OMIM 214300) is characterised by improper segmentation of cervical segments at early stages (2–4 weeks) resulting in congenitally fused cervical vertebrae1 that can cause a limited range of motion, pain and, over time, spinal stenosis and nerve damage. The phenotypic expression of KFS is variable, occurring with or without extraskeletal manifestations or any additional spinal abnormalities. The prevalence has been estimated at 1 in 50 000. Several candidates’ genes have been proposed
Figure 1 (A and B) Anteroposterior and lateral plain radiographs. (C and D) CT of the C-spine. These show multiple vertebral defects with fusion of contiguous segments and left Sprengel’s deformity (congenital elevation of the scapula). Basilar invagination associated with superior odontoid migration (SOM) entails an upward/vertical migration of the odontoid process into the foramen magnum. 290
Schnekenberg RP, et al. Arch Dis Child 2014;99:284–291. doi:10.1136/archdischild-2012-302881
Review but aetiology remains unknown.2 Differential diagnosis should include a surgical history of spinal fusion, ankylosing spondylitis, juvenile idiopathic arthritis, fibrodysplasia ossificans progressiva and osteomyelitis.3 Treatment is based on the management of commonly associated symptoms, which include neck and/or back pain, radiculopathy and/or myelopathy. Surgical intervention may be warranted for specific cases where excessive cervical or craniovertebral motion is deemed potentially unstable.4 Due to anatomical cervical malformations, patients with KFS may present a challenge when managing the airway.5 1
1
Paola Sabrina Buonuomo, Marina Macchiaiolo, Giovanna Stefania Colafati,2 Ippolita Rana,3 Paolo Tomà,2 Michaela Veronika Gonfiantini,1 Andrea Bartuli1 1 Rare Diseases and Medical Genetics, Department of Pediatrics, Bambino Gesù Children’s Hospital, Rome, Italy 2 Department of Imaging, Bambino Gesù Children’s Hospital, Rome, Italy 3 General Pediatrics and Infectious Diseases, Bambino Gesù Children’s Hospital, Rome, Italy
Correspondence to Dr Paola Sabrina Buonuomo, Rare Diseases and Medical Genetics, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, Rome, Italy; [email protected] Acknowledgements We thank Alessandro Adducci for technical help in images collection. Contributors PSB and MM were involved in clinical management of the patient and wrote the paper. IR and MVG follow the patient during the time AB had the
supervision of the work. GSC and PT co-worked on images collection and their interpretation. All authors have contributed and approved the manuscript. Competing interests None. Patient consent Obtained. Provenance and peer review Not commissioned; internally peer reviewed. ▸ A video CT with three-dimensional reconstruction is available to view online. To view this file please visit the journal online (http://dx.doi.org/10.1136/ archdischild-2013-305203). To cite Buonuomo PS, Macchiaiolo M, Colafati G S, et al. Arch Dis Child 2014;99:290–291. Accepted 8 November 2013 Published Online First 28 November 2013 Arch Dis Child 2014;99:290–291. doi:10.1136/archdischild-2013-305203
REFERENCES 1 2 3
4 5
Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004;424:183–90. Mohamed JI, Faqeih E, Alsiddiky A, et al. Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly. Am J Hum Genet 2013;92:157–61. Laker SR, Concannon LG. Radiologic evaluation of the neck: a review of radiography, ultrasonography, computed tomography, magnetic resonance imaging, and other imaging modalities for neck pain. Phys Med Rehabil Clin N Am 2011;22:411–28. Kim HJ. Cervical spine anomalies in children and adolescents. Curr Opin Pediatr 2013;25:72–7. Stallmer ML, Vanaharam V, Mashour GA. Congenital cervical spine fusion and airway management: a case series of Klippel-Feil syndrome. J Clin Anesth 2008;20:447–51.
Schnekenberg RP, et al. Arch Dis Child 2014;99:284–291. doi:10.1136/archdischild-2012-302881
291
IMAGES IN PAEDIATRICS
Persistent neck pain in a girl: Klippel-Feil syndrome A 4-year-old girl was referred for recurrent neck pain. On examination, she was noted to have a short neck with very limited range of motion and a low-set posterior hairline. Suspecting Klippel-Feil Syndrome (KFS), X-rays (figure 1A and B) and CT (figure 1C and D) with three-dimensional reconstruction (see
online supplementary video 1) were performed and a complex malformation of the cervical spine and craniocervical junction was detected. KFS (OMIM 214300) is characterised by improper segmentation of cervical segments at early stages (2–4 weeks) resulting in congenitally fused cervical vertebrae1 that can cause a limited range of motion, pain and, over time, spinal stenosis and nerve damage. The phenotypic expression of KFS is variable, occurring with or without extraskeletal manifestations or any additional spinal abnormalities. The prevalence has been estimated at 1 in 50 000. Several candidates’ genes have been proposed
Figure 1 (A and B) Anteroposterior and lateral plain radiographs. (C and D) CT of the C-spine. These show multiple vertebral defects with fusion of contiguous segments and left Sprengel’s deformity (congenital elevation of the scapula). Basilar invagination associated with superior odontoid migration (SOM) entails an upward/vertical migration of the odontoid process into the foramen magnum. 290
Schnekenberg RP, et al. Arch Dis Child 2014;99:284–291. doi:10.1136/archdischild-2012-302881
Review but aetiology remains unknown.2 Differential diagnosis should include a surgical history of spinal fusion, ankylosing spondylitis, juvenile idiopathic arthritis, fibrodysplasia ossificans progressiva and osteomyelitis.3 Treatment is based on the management of commonly associated symptoms, which include neck and/or back pain, radiculopathy and/or myelopathy. Surgical intervention may be warranted for specific cases where excessive cervical or craniovertebral motion is deemed potentially unstable.4 Due to anatomical cervical malformations, patients with KFS may present a challenge when managing the airway.5 1
1
Paola Sabrina Buonuomo, Marina Macchiaiolo, Giovanna Stefania Colafati,2 Ippolita Rana,3 Paolo Tomà,2 Michaela Veronika Gonfiantini,1 Andrea Bartuli1 1 Rare Diseases and Medical Genetics, Department of Pediatrics, Bambino Gesù Children’s Hospital, Rome, Italy 2 Department of Imaging, Bambino Gesù Children’s Hospital, Rome, Italy 3 General Pediatrics and Infectious Diseases, Bambino Gesù Children’s Hospital, Rome, Italy
Correspondence to Dr Paola Sabrina Buonuomo, Rare Diseases and Medical Genetics, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital, Rome, Italy; [email protected] Acknowledgements We thank Alessandro Adducci for technical help in images collection. Contributors PSB and MM were involved in clinical management of the patient and wrote the paper. IR and MVG follow the patient during the time AB had the
supervision of the work. GSC and PT co-worked on images collection and their interpretation. All authors have contributed and approved the manuscript. Competing interests None. Patient consent Obtained. Provenance and peer review Not commissioned; internally peer reviewed. ▸ A video CT with three-dimensional reconstruction is available to view online. To view this file please visit the journal online (http://dx.doi.org/10.1136/ archdischild-2013-305203). To cite Buonuomo PS, Macchiaiolo M, Colafati G S, et al. Arch Dis Child 2014;99:290–291. Accepted 8 November 2013 Published Online First 28 November 2013 Arch Dis Child 2014;99:290–291. doi:10.1136/archdischild-2013-305203
REFERENCES 1 2 3
4 5
Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004;424:183–90. Mohamed JI, Faqeih E, Alsiddiky A, et al. Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly. Am J Hum Genet 2013;92:157–61. Laker SR, Concannon LG. Radiologic evaluation of the neck: a review of radiography, ultrasonography, computed tomography, magnetic resonance imaging, and other imaging modalities for neck pain. Phys Med Rehabil Clin N Am 2011;22:411–28. Kim HJ. Cervical spine anomalies in children and adolescents. Curr Opin Pediatr 2013;25:72–7. Stallmer ML, Vanaharam V, Mashour GA. Congenital cervical spine fusion and airway management: a case series of Klippel-Feil syndrome. J Clin Anesth 2008;20:447–51.
Schnekenberg RP, et al. Arch Dis Child 2014;99:284–291. doi:10.1136/archdischild-2012-302881
291
