Acta Neurol Belg DOI 10.1007/s13760-014-0315-x
NEURO-IMAGES
The multiple associations of Klippel–Feil syndrome Anitha Jasper • Sniya Valsa Sudhakar Gibikote V. Sridhar
•
Received: 8 November 2013 / Accepted: 19 May 2014 Ó Belgian Neurological Society 2014
Keywords Klippel–Feil syndrome Inner ear anomalies Cervicomedullary neuroschisis
Introduction Klippel–Feil syndrome (KFS), initially reported by Maurice Klippel and Andre´ Feil from France in 1912, is seen more often in females than in males with less than 50 % of patients presenting with the classic clinical triad of short neck, low hair line, and restricted neck motion [1]. It is defined as the congenital fusion of two or more cervical vertebrae and is known to be associated with other abnormalities in the heart, kidneys, great vessels, ear and central nervous system [2, 3].
Clinical profile A 11-year-old girl with KFS diagnosed at 1 year of age was referred for evaluation of hearing loss in the left ear from the age of 3 years. She did not have any neurological deficits nor did she give a history of mirror movements. MRI brain and cervical spine showed fusion of multiple cervical vertebrae and the posterior arch elements. There was cervicomedullary neuroschisis extending up to C3 vertebral level with tonsillar herniation. The anterior arch and posterior arches of the atlas were not identified and the foramen magnum was widened. An aberrant right subclavian artery was present (Figs. 1, 2). Features of type I incomplete partition were seen in the left inner ear with a cystic-appearing cochlea lacking entire modiolus and
A. Jasper (&) S. V. Sudhakar G. V. Sridhar Department of Radiology, Christian Medical College, Vellore 632004, Tamil Nadu, India e-mail: [email protected] S. V. Sudhakar e-mail: [email protected] G. V. Sridhar e-mail: [email protected]
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Acta Neurol Belg
Fig. 1 T1W sagittal image (a) of the cervicomedullary junction shows widening of the foramen magnum (large white arrow), tonsillar herniation (small black arrows) and fusion of multiple cervical vertebrae (small white arrows). T2W coronal image (b) of the cervicomedullary junction shows features of cervicomedullary neuroschisis (red arrow) and an aberrant right subclavian artery (small white arrows) (colour figure online)
cribriform area and a large cystic vestibule. Lateral semicircular canal anlage with absent central bone island was also seen (Fig. 3).
Discussion KFS has been found to be associated with multiple other skeletal and visceral anomalies. Mutations in the GDF1, GDF3 and GDF6 genes have been implicated [1]. There are three types of KFS which have been described based on the degree of cervical fusion. Type 1: cervical spine fusion in which elements of many vertebrae are incorporated into a single block. Type 2: cervical spine fusion in which there is failure of complete segmentation at only one or two cervical levels and may include an occipito-atlantal fusion. Type 3: type 1 or type 2 fusion with co-existing segmentation errors in the lower dorsal or lumbar spine [5]. It is known to be associated with otologic deformities in all sections of the ear [3]. Various associated vascular
123
Fig. 2 Serial T2 axial images (a) showing evidence of splitting of the medulla and upper cervical cord—cervicomedullary neuroschisis (red arrows) with fusion at C3 level (white arrow). T1 coronal image (b) shows the split in the medulla (red arrow). T1 sagittal image (c) shows marked thinning of the lower medulla and upper cervical cord (red arrow) at the level of the splitting (colour figure online)
anomalies such as persistent trigeminal artery, thoracic bifurcation of the CCA, aortic coarctation, anomalous course of the subclavian artery and agenesis of the ICA have been previously described. A strong association exists between cervicomedullary neuroschisis and mirror movements; however, it was not seen in our case [4]. Awareness of the various associations of KFS is essential while evaluating a patient with this condition, to avoid missing other significant anomalies.
Acta Neurol Belg
Fig. 3 Axial (a) and coronal (b) DRIVE images and axial CT image (c) showing Type 1 incomplete partition anomaly (red arrows) and lateral semicircular canal anlage with absent central bone island
Conflict of interest
None.
References 1. Patel PR, Lauerman WC (1995) Maurice Klippel. Spine. 20(19): 2157–2160 2. Abbas J, Nazzal M, Serrano P, Elmer L (2006) Aortic arch abnormality in a patient with Klippel–Feil syndrome. Vascular 14(1):43–46
(white arrows), CT shows absent modiolus (black arrow). Oblique DRIVE images (d) through IAC show normal appearance of nerves (blue arrows) (colour figure online) 3. Mahirog˘ullari M, Ozkan H, Yildirim N, Cilli F, Gu¨demez E (2006) Klippel–Feil syndrome and associated congenital abnormalities: evaluation of 23 cases. Acta Orthop Traumatol Turc 40(3):234–239 4. Yildirim N, Arslanog˘lu A, Mahirog˘ullari M, Sahan M, Ozkan H (2008) Klippel–Feil syndrome and associated ear anomalies. Am J Otolaryngol 29(5):319–325 5. Royal SA, Tubbs RS, D’Antonio MG, Rauzzino MJ, Oakes WJ (2002) Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel– Feil syndrome. Am J Neuroradiol 23(4):724–729
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NEURO-IMAGES
The multiple associations of Klippel–Feil syndrome Anitha Jasper • Sniya Valsa Sudhakar Gibikote V. Sridhar
•
Received: 8 November 2013 / Accepted: 19 May 2014 Ó Belgian Neurological Society 2014
Keywords Klippel–Feil syndrome Inner ear anomalies Cervicomedullary neuroschisis
Introduction Klippel–Feil syndrome (KFS), initially reported by Maurice Klippel and Andre´ Feil from France in 1912, is seen more often in females than in males with less than 50 % of patients presenting with the classic clinical triad of short neck, low hair line, and restricted neck motion [1]. It is defined as the congenital fusion of two or more cervical vertebrae and is known to be associated with other abnormalities in the heart, kidneys, great vessels, ear and central nervous system [2, 3].
Clinical profile A 11-year-old girl with KFS diagnosed at 1 year of age was referred for evaluation of hearing loss in the left ear from the age of 3 years. She did not have any neurological deficits nor did she give a history of mirror movements. MRI brain and cervical spine showed fusion of multiple cervical vertebrae and the posterior arch elements. There was cervicomedullary neuroschisis extending up to C3 vertebral level with tonsillar herniation. The anterior arch and posterior arches of the atlas were not identified and the foramen magnum was widened. An aberrant right subclavian artery was present (Figs. 1, 2). Features of type I incomplete partition were seen in the left inner ear with a cystic-appearing cochlea lacking entire modiolus and
A. Jasper (&) S. V. Sudhakar G. V. Sridhar Department of Radiology, Christian Medical College, Vellore 632004, Tamil Nadu, India e-mail: [email protected] S. V. Sudhakar e-mail: [email protected] G. V. Sridhar e-mail: [email protected]
123
Acta Neurol Belg
Fig. 1 T1W sagittal image (a) of the cervicomedullary junction shows widening of the foramen magnum (large white arrow), tonsillar herniation (small black arrows) and fusion of multiple cervical vertebrae (small white arrows). T2W coronal image (b) of the cervicomedullary junction shows features of cervicomedullary neuroschisis (red arrow) and an aberrant right subclavian artery (small white arrows) (colour figure online)
cribriform area and a large cystic vestibule. Lateral semicircular canal anlage with absent central bone island was also seen (Fig. 3).
Discussion KFS has been found to be associated with multiple other skeletal and visceral anomalies. Mutations in the GDF1, GDF3 and GDF6 genes have been implicated [1]. There are three types of KFS which have been described based on the degree of cervical fusion. Type 1: cervical spine fusion in which elements of many vertebrae are incorporated into a single block. Type 2: cervical spine fusion in which there is failure of complete segmentation at only one or two cervical levels and may include an occipito-atlantal fusion. Type 3: type 1 or type 2 fusion with co-existing segmentation errors in the lower dorsal or lumbar spine [5]. It is known to be associated with otologic deformities in all sections of the ear [3]. Various associated vascular
123
Fig. 2 Serial T2 axial images (a) showing evidence of splitting of the medulla and upper cervical cord—cervicomedullary neuroschisis (red arrows) with fusion at C3 level (white arrow). T1 coronal image (b) shows the split in the medulla (red arrow). T1 sagittal image (c) shows marked thinning of the lower medulla and upper cervical cord (red arrow) at the level of the splitting (colour figure online)
anomalies such as persistent trigeminal artery, thoracic bifurcation of the CCA, aortic coarctation, anomalous course of the subclavian artery and agenesis of the ICA have been previously described. A strong association exists between cervicomedullary neuroschisis and mirror movements; however, it was not seen in our case [4]. Awareness of the various associations of KFS is essential while evaluating a patient with this condition, to avoid missing other significant anomalies.
Acta Neurol Belg
Fig. 3 Axial (a) and coronal (b) DRIVE images and axial CT image (c) showing Type 1 incomplete partition anomaly (red arrows) and lateral semicircular canal anlage with absent central bone island
Conflict of interest
None.
References 1. Patel PR, Lauerman WC (1995) Maurice Klippel. Spine. 20(19): 2157–2160 2. Abbas J, Nazzal M, Serrano P, Elmer L (2006) Aortic arch abnormality in a patient with Klippel–Feil syndrome. Vascular 14(1):43–46
(white arrows), CT shows absent modiolus (black arrow). Oblique DRIVE images (d) through IAC show normal appearance of nerves (blue arrows) (colour figure online) 3. Mahirog˘ullari M, Ozkan H, Yildirim N, Cilli F, Gu¨demez E (2006) Klippel–Feil syndrome and associated congenital abnormalities: evaluation of 23 cases. Acta Orthop Traumatol Turc 40(3):234–239 4. Yildirim N, Arslanog˘lu A, Mahirog˘ullari M, Sahan M, Ozkan H (2008) Klippel–Feil syndrome and associated ear anomalies. Am J Otolaryngol 29(5):319–325 5. Royal SA, Tubbs RS, D’Antonio MG, Rauzzino MJ, Oakes WJ (2002) Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel– Feil syndrome. Am J Neuroradiol 23(4):724–729
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