- Email: [email protected]
Vertebral artery dissection after neck extension in an adult patient with Klippel–Feil syndrome
Case Reports / Journal of Clinical Neuroscience 21 (2014) 685–688
for methionine at codon 129 of the prion protein is more frequent, which, however, was not tested in our patient [5]. In conclusion, from our patient we have learned two lessons. First, prion disease can manifest in an acute manner with signs and symptoms mimicking stroke. Thus, in day-to-day clinical practice, this differential diagnosis has to be considered. Because visual symptoms can initially predominate, ophthalmologists should also be aware of this clinical condition, particularly if they plan invasive procedures [4,10]. However, over-diagnosis is also a risk and should be avoided [11]. Second, 4 days after the onset of clinical symptoms, an MRI revealed an abnormality which retrospectively was recognised to be a nearly pathognomonic pattern, which would have allowed an early diagnosis. In the literature, a positive early MRI has been reported during the 9 days after symptom onset [12]. Unfortunately, this finding was misinterpreted in our patient as it was probably confounded by the history of acute onset and circumscribed symptomatology. Recently, MRI has been proposed to be included in the diagnostic criteria for CJD because the pattern of hyperintensity and restricted diffusion can differentiate CJD from other forms of rapid dementia with high sensitivity and specificity [13]. However, interpretation requires thorough training of radiologists, as well as neurologists, in order to become familiar with these findings. Conflicts of interest/disclosure The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. Acknowledgments The authors thank Prof. Dr. Inga Zerr (Prion Research Institute, Göttingen, Germany) for analysis of protein 14-3-3 and expert discussion of the clinical findings; Dr. Kretz (Ophthalmologist’s Office
685
Landshut, Germany) for providing the ophthalmological results; the Radiological Institute Mühleninsel (Landshut, Germany) for providing the first MRI findings, and PD Dr. Dinkel (Radiological Department, Municipal Hospital, Landshut, Germany) for providing the second MRI findings.
References [1] Fraser JA, Newman NJ, Biousse V. Disorders of the optic tract, radiation, and occipital lobe. Handb Clin Neurol 2011;102:205–21. [2] Heckmann JG, Stadter M, Dütsch M, et al. Hospitalization of nonstroke patients in a Stroke Unit. Dtsch Med Wochenschr 2004;129: 731–5. [3] Lang CJ, Heckmann JG, Neundörfer B. Creutzfeldt-Jakob disease via dural and corneal transplants. J Neurol Sci 1998;160:128–39. [4] Cooper SA, Murray KL, Heath CA, et al. Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the ‘‘Heidenhain variant’’. Br J Ophthalmol 2005;89:1341–2. [5] Kropp S, Schulz-Schaeffler WJ, Finkenstaedt M, et al. The Heidenhain variant of Creutzfeldt-Jakob disease. Arch Neurol 1999;56:55–61. [6] Hohler AD, Flynn FG. Onset of Creutzfeldt-Jakob Disease mimicking an acute cerebrovascular event. Neurology 2006;67:538–9. [7] Szabo K, Achtnichts L, Grips E, et al. Stroke-like presentation of CreutzfeldtJakob disease. Cerebovasc Dis 2004;18:251–3. [8] Lyytinen J, Sairanen T, Valanne L, et al. Progressive stroke-like symptoms in a patient with sporadic Creutzfeldt-Jakob disease. Case Rep Neurol 2010;2:12–8. [9] Hirst CL. Sporadic Creutzfeldt-Jakob-Disease presenting as a stroke mimic. Br J Hosp Med (Lond) 2011;72:590–1. [10] Amstrong RA. Creutzfeldt-Jakob disease and vision. Clin Exp Optom 2006;89:3–9. [11] Chitravas N, Jung RS, Kofskey DM, et al. Treatable neurological disorders misdiagnosed as Creutzfeldt-Jakob disease. Ann Neurol 2011;70:437–44. [12] Bekiesin´ska-Figatowska M, Kuczyn´ska-Zardzewiały A, Pomianowska B, et al. The value of magnetic resonance imaging in the early diagnosis of CreutzfeldtJakob disease – own experience. Pol J Radiol 2012;77:63–7. [13] Vitali P, Maccagnano E, Caverzasi E, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology 2011;76:1711–9.
http://dx.doi.org/10.1016/j.jocn.2013.07.007
Vertebral artery dissection after neck extension in an adult patient with Klippel–Feil syndrome David Dornbos III a,⇑, Daniel S. Ikeda a, Andrew Slivka b, Ciaran Powers a a b
Ohio State University Wexner Medical Center, Department of Neurosurgery, N1014 Doan Hall, 410 West 10th Avenue, Columbus, OH 43210, USA Ohio State University Wexner Medical Center, Department of Neurology, Columbus, OH, USA
a r t i c l e
i n f o
Article history: Received 26 June 2013 Accepted 12 July 2013
Keywords: Cervical hypermobility Klippel–Feil syndrome Vertebral artery dissection
a b s t r a c t The association between Klippel–Feil syndrome and vertebral artery dissection is quite rare. We report an adult patient with vertebral artery dissection and Klippel–Feil syndrome, to our knowledge only the third reported case of its kind. A 45-year-old woman with a known history of Klippel–Feil syndrome presented with occipital head and neck pain following forced neck extension. Diagnostic cerebral angiography revealed a high grade vertebral artery stenosis, consistent with vertebral artery dissection. Following 6 months of medical management, a repeat diagnostic angiogram revealed complete healing of the vessel. While cervical fusion, as seen in Klippel–Feil syndrome, has previously been shown to cause neurologic injury secondary to hypermobility, the association with vertebral artery dissection is incredibly rare. We hypothesize that this hypermobility places abnormal shear force on the vessel, causing intimal injury and dissection. Patients with seemingly spontaneous vertebral artery dissection may benefit from cervical spine radiography, and this predisposition to cerebrovascular injury strongly suggests further evaluation of vascular injury following trauma in patients with Klippel–Feil syndrome or other cervical fusion as clinically warranted. Ó 2013 Elsevier Ltd. All rights reserved.
⇑ Corresponding author. Tel.: +1 614 293 0821; fax: +1 614 293 4281. E-mail address: [email protected] (D. Dornbos III).
686
Case Reports / Journal of Clinical Neuroscience 21 (2014) 685–688
1. Introduction Vertebral artery dissections (VAD) typically present with benign findings of headache and neck pain, but may cause transient ischemic attacks or severe ischemic strokes. Up to 20% of ischemic strokes in patients 45 years of age and younger, and approximately 2% of all ischemic strokes, are attributable to carotid artery dissections and VAD [1]. Many risk factors for developing a VAD have been previously described, including cervical trauma, vascular disease, connective tissue abnormalities, manual cervical spine manipulation and infection [1].
Klippel–Feil syndrome refers to a heterogeneous group of congenital abnormalities having in common the fusion of two or more cervical vertebrae. Neurologic symptoms related to Klippel–Feil syndrome are rare, including cerebrovascular complications, sudden loss of consciousness, apnea and spinal cord injury, occurring secondary to cervical instability and hypermobility above and below the fused segment [2]. Following minor trauma, spinal cord injury in Klippel-Feil syndrome may manifest as subtly as myelopathy or as significantly as quadriplegia [2,3]. While various cerebrovascular anomalies have also been shown to occur in association with Klippel–Feil syndrome, cerebrovascular injury is uncommon [2–5]. We describe a rare case of an adult patient with Klippel–Feil syndrome who presented with a VAD after mild neck manipulation. While several case reports have identified an association between VAD and Klippel–Feil syndrome in children, [4,5] to our knowledge this is only the third reported association between Klippel–Feil syndrome and a vertebral artery injury [2,6].
2. Case report
Fig. 1. Lateral plain radiograph films revealing fusion of the second and third cervical vertebrae in a patient with Klippel–Feil syndrome.
A 45-year-old woman presented shortly after a hairstyling appointment with acute onset of right sided neck and occipital head pain. The patient reported having her neck extended while having her hair rinsed during this appointment. She described no focal neurological deficit. She was found to have atlanto-occipital assimilation, in addition to fusion of the second and third cervical vertebrae posteriorly (Fig. 1), consistent with a known history of Klippel–Feil syndrome. The patient underwent a diagnostic cerebral angiogram and was found to have a high grade VAD with stenosis, extending from the V3 segment of the right vertebral artery to the posterior inferior cerebellar artery (Fig. 2A). There was no evidence of diffusion restriction on MRI. She was medically managed with aspirin and clopidogrel. Approximately 6 months after her initial angiogram, repeat angiography revealed that the injured right vertebral artery had undergone complete healing, and there was no evidence of persis-
Fig. 2. Diagnostic cerebral angiography of the right vertebral artery (anteroposterior view) showing (A) high grade stenosis of the right vertebral artery, consistent with vertebral artery dissection, and (B) complete resolution of the dissection following 6 months of medical management.
Case Reports / Journal of Clinical Neuroscience 21 (2014) 685–688
687
Fig. 3. Original graphic revealing cervical fusion frequently observed in Klippel–Feil syndrome. (This figure is available in colour at www.sciencedirect.com.)
tent vessel injury (Fig. 2B). Her medical therapy was discontinued at this time. The neurological surgery team recommended that she avoid use of chiropractic services and other circumstances in which she may undergo forced neck manipulation. 3. Discussion VAD is a significant cause of cerebrovascular accidents in young and middle aged adults, [1] yet an association with Klippel–Feil syndrome has rarely been reported [2,6]. Upper cervical fusion, as seen in Klippel–Feil syndrome, has been implicated in multiple neurological findings and sequelae following even minor trauma [3]. In these patients, the hypermobility of the cervical spine proximal to the fusion, in combination with neck extension, predisposes the vertebral artery to abnormal shear forces, leading to intimal injury, intramural hematoma formation and potential arterial dissection (Fig. 3). Often, this hypermobility can be asymptomatic for decades; however, it predisposes to a spectrum of spinal cord or cerebrovascular injuries [2,4–6]. Among numerous other etiologies, sudden cervical rotation, neck extension and spinal manipulation have been implicated in vertebral artery injury, as they place additional strain on the artery [1]. In our patient, a clear history of forced neck extension was described prior to presentation, which has been seen previously in cervical spine manipulation preceding VAD [7]. Hyperextension and abnormal rotation have been previously identified as predisposing movements in patients with Klippel–Feil syndrome, which may lead to VAD [4]. In this patient, the fused segments provided a hypermobile fulcrum, generating abnormal force on the vertebral
arteries and predisposing them to intimal injury and dissection. It has been recommended that patients who present with signs and symptoms of VAD be evaluated with cervical spine radiography [2,5]. Similarly, clinicians should be aware of this association when treating patients with known congenital cervical spine abnormalities or surgical fusions that present with signs or symptoms of cerebrovascular injury following cervical trauma. We describe a rare case of an adult patient with Klippel–Feil syndrome and VAD following cervical spine manipulation and forced neck extension. Although causality cannot absolutely be defined, the hypermobility of the segments proximal to the fused cervical spine and the decreased mobility of the vertebral artery proximal to the V3 segment likely resulted in increased shearing forces on the vessel, predisposing the artery to intimal injury and dissection. While the association between Klippel–Feil syndrome and VAD is rare, it has important clinical implications. The association between these two entities implores further investigation of cervical spine abnormalities in patients who suffer a VAD with unknown or minimal neck trauma. Conflict of interest/disclosure The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. References [1] Dziewas R, Konrad C, Drager B, et al. Cervical artery dissection–clinical features, risk factors, therapy and outcome in 126 patients. J Neurol 2003;250:1179–84.
688
Case Reports / Journal of Clinical Neuroscience 21 (2014) 688–689
[2] Karimi M, Razavi M, Fattal D. Rubral lateropulsion due to vertebral artery dissection in a patient with Klippel-Feil syndrome. Arch Neurol 2004;61:583–5. [3] Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am 1974;56:1246–53. [4] Dirik E, Yis U, Dirik MA, et al. Vertebral artery dissection in a patient with Wildervanck syndrome. Pediatr Neurol 2008;39:218–20.
[5] Hasan I, Wapnick S, Kutscher ML, et al. Vertebral arterial dissection associated with Klippel-Feil syndrome in a child. Childs Nerv Syst 2002;18:67–70. [6] Shimizu S, Kojima T, Morooka Y, et al. Extracranial vertebral artery aneurysm complicating Klippel-Feil syndrome: case report. No shinkei geka 1996;24:933–7. [7] Rothwell DM, Bondy SJ, Williams JI. Chiropractic manipulation and stroke: a population-based case-control study. Stroke 2001;32:1054–60.
http://dx.doi.org/10.1016/j.jocn.2013.07.007
Choking, asphyxiation and the insular seizure Nimeshan Geevasinga a, John Stephen Archer b, Karl Ng a,⇑ a b
Department of Neurology, Royal North Shore Hospital and University of Sydney, Sydney, Australia Department of Neurology, Austin Health and University of Melbourne, Melbourne, VIC, Australia
a r t i c l e
i n f o
Article history: Received 16 February 2013 Accepted 11 May 2013
Keywords: Choking Insular Opercular Seizure
a b s t r a c t The insular cortex is located deep within the Sylvian fissure, and has rich connections. We describe two patients with focal epilepsy arising from this area, with symptoms of choking and strangulation during consciousness. Clinicians should be aware of this unusual presentation and that interictal electroencephalography can be normal. Ó 2013 Elsevier Ltd. All rights reserved.
1. Introduction
2.2. Patient 2
Seizures arising from the insular region can have an unusual but distinctive semiology. Unless the treating doctor is familiar with the features of insular epilepsy, patients can be easily misdiagnosed.
A 42-year-old woman presented with recurrent episodes of ‘‘gagging’’. In childhood, she began having episodes of an odd feeling behind the left eye, then eye rolling. Following a generalised tonic-clonic seizure, she was started on carbamazepine and the events described above abated for many years. From 30 years of age, she began having nightly attacks of waking with ‘‘tightness in the throat’’, gagging, and feelings of panic. Awareness would be
2. Case reports 2.1. Patient 1 A 19-year-old man experienced an episode consisting of jaw locking, speech arrest and inability to use his arms in preserved consciousness. This very distressing period was associated with a sense of throat constriction. Subsequently, the patient lost consciousness. An eyewitness report suggested a cry at the start of the event was associated with the eyes rolling. Throughout the event, which lasted for 5 minutes, it appeared as though the patient was choking. Post-ictally, he was confused. There was no past history of seizures or other significant medical issues. The neurological examination was normal. Routine blood tests were unremarkable. Interictal electroencephalography (EEG) demonstrated left hemispheric slow activity but no epileptiform abnormalities. Brain MRI showed a non-enhancing 7 5 mm ovoid lesion in the left insular white matter (Fig. 1). Differential diagnoses included cortical dysplasia, harmartoma or a low grade neoplasm. A biopsy was not undertaken given its location in the dominant hemisphere and its benign appearance on imaging. Over a 5 year follow-up period, there was no change in the appearance of the lesion. The patient did not experience another seizure whilst on a low dose of sodium valproate. ⇑ Corresponding author. Tel.: +61 2 9463 1833; fax: +61 2 9463 1058. E-mail address: [email protected] (K. Ng).
Fig. 1. Coronal T2-weighted fluid attenuated inversion recovery brain MRI of Patient 1 showing hyperintensity measuring 5 mm in the left anterior insular cortex (arrow).
for methionine at codon 129 of the prion protein is more frequent, which, however, was not tested in our patient [5]. In conclusion, from our patient we have learned two lessons. First, prion disease can manifest in an acute manner with signs and symptoms mimicking stroke. Thus, in day-to-day clinical practice, this differential diagnosis has to be considered. Because visual symptoms can initially predominate, ophthalmologists should also be aware of this clinical condition, particularly if they plan invasive procedures [4,10]. However, over-diagnosis is also a risk and should be avoided [11]. Second, 4 days after the onset of clinical symptoms, an MRI revealed an abnormality which retrospectively was recognised to be a nearly pathognomonic pattern, which would have allowed an early diagnosis. In the literature, a positive early MRI has been reported during the 9 days after symptom onset [12]. Unfortunately, this finding was misinterpreted in our patient as it was probably confounded by the history of acute onset and circumscribed symptomatology. Recently, MRI has been proposed to be included in the diagnostic criteria for CJD because the pattern of hyperintensity and restricted diffusion can differentiate CJD from other forms of rapid dementia with high sensitivity and specificity [13]. However, interpretation requires thorough training of radiologists, as well as neurologists, in order to become familiar with these findings. Conflicts of interest/disclosure The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. Acknowledgments The authors thank Prof. Dr. Inga Zerr (Prion Research Institute, Göttingen, Germany) for analysis of protein 14-3-3 and expert discussion of the clinical findings; Dr. Kretz (Ophthalmologist’s Office
685
Landshut, Germany) for providing the ophthalmological results; the Radiological Institute Mühleninsel (Landshut, Germany) for providing the first MRI findings, and PD Dr. Dinkel (Radiological Department, Municipal Hospital, Landshut, Germany) for providing the second MRI findings.
References [1] Fraser JA, Newman NJ, Biousse V. Disorders of the optic tract, radiation, and occipital lobe. Handb Clin Neurol 2011;102:205–21. [2] Heckmann JG, Stadter M, Dütsch M, et al. Hospitalization of nonstroke patients in a Stroke Unit. Dtsch Med Wochenschr 2004;129: 731–5. [3] Lang CJ, Heckmann JG, Neundörfer B. Creutzfeldt-Jakob disease via dural and corneal transplants. J Neurol Sci 1998;160:128–39. [4] Cooper SA, Murray KL, Heath CA, et al. Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the ‘‘Heidenhain variant’’. Br J Ophthalmol 2005;89:1341–2. [5] Kropp S, Schulz-Schaeffler WJ, Finkenstaedt M, et al. The Heidenhain variant of Creutzfeldt-Jakob disease. Arch Neurol 1999;56:55–61. [6] Hohler AD, Flynn FG. Onset of Creutzfeldt-Jakob Disease mimicking an acute cerebrovascular event. Neurology 2006;67:538–9. [7] Szabo K, Achtnichts L, Grips E, et al. Stroke-like presentation of CreutzfeldtJakob disease. Cerebovasc Dis 2004;18:251–3. [8] Lyytinen J, Sairanen T, Valanne L, et al. Progressive stroke-like symptoms in a patient with sporadic Creutzfeldt-Jakob disease. Case Rep Neurol 2010;2:12–8. [9] Hirst CL. Sporadic Creutzfeldt-Jakob-Disease presenting as a stroke mimic. Br J Hosp Med (Lond) 2011;72:590–1. [10] Amstrong RA. Creutzfeldt-Jakob disease and vision. Clin Exp Optom 2006;89:3–9. [11] Chitravas N, Jung RS, Kofskey DM, et al. Treatable neurological disorders misdiagnosed as Creutzfeldt-Jakob disease. Ann Neurol 2011;70:437–44. [12] Bekiesin´ska-Figatowska M, Kuczyn´ska-Zardzewiały A, Pomianowska B, et al. The value of magnetic resonance imaging in the early diagnosis of CreutzfeldtJakob disease – own experience. Pol J Radiol 2012;77:63–7. [13] Vitali P, Maccagnano E, Caverzasi E, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology 2011;76:1711–9.
http://dx.doi.org/10.1016/j.jocn.2013.07.007
Vertebral artery dissection after neck extension in an adult patient with Klippel–Feil syndrome David Dornbos III a,⇑, Daniel S. Ikeda a, Andrew Slivka b, Ciaran Powers a a b
Ohio State University Wexner Medical Center, Department of Neurosurgery, N1014 Doan Hall, 410 West 10th Avenue, Columbus, OH 43210, USA Ohio State University Wexner Medical Center, Department of Neurology, Columbus, OH, USA
a r t i c l e
i n f o
Article history: Received 26 June 2013 Accepted 12 July 2013
Keywords: Cervical hypermobility Klippel–Feil syndrome Vertebral artery dissection
a b s t r a c t The association between Klippel–Feil syndrome and vertebral artery dissection is quite rare. We report an adult patient with vertebral artery dissection and Klippel–Feil syndrome, to our knowledge only the third reported case of its kind. A 45-year-old woman with a known history of Klippel–Feil syndrome presented with occipital head and neck pain following forced neck extension. Diagnostic cerebral angiography revealed a high grade vertebral artery stenosis, consistent with vertebral artery dissection. Following 6 months of medical management, a repeat diagnostic angiogram revealed complete healing of the vessel. While cervical fusion, as seen in Klippel–Feil syndrome, has previously been shown to cause neurologic injury secondary to hypermobility, the association with vertebral artery dissection is incredibly rare. We hypothesize that this hypermobility places abnormal shear force on the vessel, causing intimal injury and dissection. Patients with seemingly spontaneous vertebral artery dissection may benefit from cervical spine radiography, and this predisposition to cerebrovascular injury strongly suggests further evaluation of vascular injury following trauma in patients with Klippel–Feil syndrome or other cervical fusion as clinically warranted. Ó 2013 Elsevier Ltd. All rights reserved.
⇑ Corresponding author. Tel.: +1 614 293 0821; fax: +1 614 293 4281. E-mail address: [email protected] (D. Dornbos III).
686
Case Reports / Journal of Clinical Neuroscience 21 (2014) 685–688
1. Introduction Vertebral artery dissections (VAD) typically present with benign findings of headache and neck pain, but may cause transient ischemic attacks or severe ischemic strokes. Up to 20% of ischemic strokes in patients 45 years of age and younger, and approximately 2% of all ischemic strokes, are attributable to carotid artery dissections and VAD [1]. Many risk factors for developing a VAD have been previously described, including cervical trauma, vascular disease, connective tissue abnormalities, manual cervical spine manipulation and infection [1].
Klippel–Feil syndrome refers to a heterogeneous group of congenital abnormalities having in common the fusion of two or more cervical vertebrae. Neurologic symptoms related to Klippel–Feil syndrome are rare, including cerebrovascular complications, sudden loss of consciousness, apnea and spinal cord injury, occurring secondary to cervical instability and hypermobility above and below the fused segment [2]. Following minor trauma, spinal cord injury in Klippel-Feil syndrome may manifest as subtly as myelopathy or as significantly as quadriplegia [2,3]. While various cerebrovascular anomalies have also been shown to occur in association with Klippel–Feil syndrome, cerebrovascular injury is uncommon [2–5]. We describe a rare case of an adult patient with Klippel–Feil syndrome who presented with a VAD after mild neck manipulation. While several case reports have identified an association between VAD and Klippel–Feil syndrome in children, [4,5] to our knowledge this is only the third reported association between Klippel–Feil syndrome and a vertebral artery injury [2,6].
2. Case report
Fig. 1. Lateral plain radiograph films revealing fusion of the second and third cervical vertebrae in a patient with Klippel–Feil syndrome.
A 45-year-old woman presented shortly after a hairstyling appointment with acute onset of right sided neck and occipital head pain. The patient reported having her neck extended while having her hair rinsed during this appointment. She described no focal neurological deficit. She was found to have atlanto-occipital assimilation, in addition to fusion of the second and third cervical vertebrae posteriorly (Fig. 1), consistent with a known history of Klippel–Feil syndrome. The patient underwent a diagnostic cerebral angiogram and was found to have a high grade VAD with stenosis, extending from the V3 segment of the right vertebral artery to the posterior inferior cerebellar artery (Fig. 2A). There was no evidence of diffusion restriction on MRI. She was medically managed with aspirin and clopidogrel. Approximately 6 months after her initial angiogram, repeat angiography revealed that the injured right vertebral artery had undergone complete healing, and there was no evidence of persis-
Fig. 2. Diagnostic cerebral angiography of the right vertebral artery (anteroposterior view) showing (A) high grade stenosis of the right vertebral artery, consistent with vertebral artery dissection, and (B) complete resolution of the dissection following 6 months of medical management.
Case Reports / Journal of Clinical Neuroscience 21 (2014) 685–688
687
Fig. 3. Original graphic revealing cervical fusion frequently observed in Klippel–Feil syndrome. (This figure is available in colour at www.sciencedirect.com.)
tent vessel injury (Fig. 2B). Her medical therapy was discontinued at this time. The neurological surgery team recommended that she avoid use of chiropractic services and other circumstances in which she may undergo forced neck manipulation. 3. Discussion VAD is a significant cause of cerebrovascular accidents in young and middle aged adults, [1] yet an association with Klippel–Feil syndrome has rarely been reported [2,6]. Upper cervical fusion, as seen in Klippel–Feil syndrome, has been implicated in multiple neurological findings and sequelae following even minor trauma [3]. In these patients, the hypermobility of the cervical spine proximal to the fusion, in combination with neck extension, predisposes the vertebral artery to abnormal shear forces, leading to intimal injury, intramural hematoma formation and potential arterial dissection (Fig. 3). Often, this hypermobility can be asymptomatic for decades; however, it predisposes to a spectrum of spinal cord or cerebrovascular injuries [2,4–6]. Among numerous other etiologies, sudden cervical rotation, neck extension and spinal manipulation have been implicated in vertebral artery injury, as they place additional strain on the artery [1]. In our patient, a clear history of forced neck extension was described prior to presentation, which has been seen previously in cervical spine manipulation preceding VAD [7]. Hyperextension and abnormal rotation have been previously identified as predisposing movements in patients with Klippel–Feil syndrome, which may lead to VAD [4]. In this patient, the fused segments provided a hypermobile fulcrum, generating abnormal force on the vertebral
arteries and predisposing them to intimal injury and dissection. It has been recommended that patients who present with signs and symptoms of VAD be evaluated with cervical spine radiography [2,5]. Similarly, clinicians should be aware of this association when treating patients with known congenital cervical spine abnormalities or surgical fusions that present with signs or symptoms of cerebrovascular injury following cervical trauma. We describe a rare case of an adult patient with Klippel–Feil syndrome and VAD following cervical spine manipulation and forced neck extension. Although causality cannot absolutely be defined, the hypermobility of the segments proximal to the fused cervical spine and the decreased mobility of the vertebral artery proximal to the V3 segment likely resulted in increased shearing forces on the vessel, predisposing the artery to intimal injury and dissection. While the association between Klippel–Feil syndrome and VAD is rare, it has important clinical implications. The association between these two entities implores further investigation of cervical spine abnormalities in patients who suffer a VAD with unknown or minimal neck trauma. Conflict of interest/disclosure The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication. References [1] Dziewas R, Konrad C, Drager B, et al. Cervical artery dissection–clinical features, risk factors, therapy and outcome in 126 patients. J Neurol 2003;250:1179–84.
688
Case Reports / Journal of Clinical Neuroscience 21 (2014) 688–689
[2] Karimi M, Razavi M, Fattal D. Rubral lateropulsion due to vertebral artery dissection in a patient with Klippel-Feil syndrome. Arch Neurol 2004;61:583–5. [3] Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am 1974;56:1246–53. [4] Dirik E, Yis U, Dirik MA, et al. Vertebral artery dissection in a patient with Wildervanck syndrome. Pediatr Neurol 2008;39:218–20.
[5] Hasan I, Wapnick S, Kutscher ML, et al. Vertebral arterial dissection associated with Klippel-Feil syndrome in a child. Childs Nerv Syst 2002;18:67–70. [6] Shimizu S, Kojima T, Morooka Y, et al. Extracranial vertebral artery aneurysm complicating Klippel-Feil syndrome: case report. No shinkei geka 1996;24:933–7. [7] Rothwell DM, Bondy SJ, Williams JI. Chiropractic manipulation and stroke: a population-based case-control study. Stroke 2001;32:1054–60.
http://dx.doi.org/10.1016/j.jocn.2013.07.007
Choking, asphyxiation and the insular seizure Nimeshan Geevasinga a, John Stephen Archer b, Karl Ng a,⇑ a b
Department of Neurology, Royal North Shore Hospital and University of Sydney, Sydney, Australia Department of Neurology, Austin Health and University of Melbourne, Melbourne, VIC, Australia
a r t i c l e
i n f o
Article history: Received 16 February 2013 Accepted 11 May 2013
Keywords: Choking Insular Opercular Seizure
a b s t r a c t The insular cortex is located deep within the Sylvian fissure, and has rich connections. We describe two patients with focal epilepsy arising from this area, with symptoms of choking and strangulation during consciousness. Clinicians should be aware of this unusual presentation and that interictal electroencephalography can be normal. Ó 2013 Elsevier Ltd. All rights reserved.
1. Introduction
2.2. Patient 2
Seizures arising from the insular region can have an unusual but distinctive semiology. Unless the treating doctor is familiar with the features of insular epilepsy, patients can be easily misdiagnosed.
A 42-year-old woman presented with recurrent episodes of ‘‘gagging’’. In childhood, she began having episodes of an odd feeling behind the left eye, then eye rolling. Following a generalised tonic-clonic seizure, she was started on carbamazepine and the events described above abated for many years. From 30 years of age, she began having nightly attacks of waking with ‘‘tightness in the throat’’, gagging, and feelings of panic. Awareness would be
2. Case reports 2.1. Patient 1 A 19-year-old man experienced an episode consisting of jaw locking, speech arrest and inability to use his arms in preserved consciousness. This very distressing period was associated with a sense of throat constriction. Subsequently, the patient lost consciousness. An eyewitness report suggested a cry at the start of the event was associated with the eyes rolling. Throughout the event, which lasted for 5 minutes, it appeared as though the patient was choking. Post-ictally, he was confused. There was no past history of seizures or other significant medical issues. The neurological examination was normal. Routine blood tests were unremarkable. Interictal electroencephalography (EEG) demonstrated left hemispheric slow activity but no epileptiform abnormalities. Brain MRI showed a non-enhancing 7 5 mm ovoid lesion in the left insular white matter (Fig. 1). Differential diagnoses included cortical dysplasia, harmartoma or a low grade neoplasm. A biopsy was not undertaken given its location in the dominant hemisphere and its benign appearance on imaging. Over a 5 year follow-up period, there was no change in the appearance of the lesion. The patient did not experience another seizure whilst on a low dose of sodium valproate. ⇑ Corresponding author. Tel.: +61 2 9463 1833; fax: +61 2 9463 1058. E-mail address: [email protected] (K. Ng).
Fig. 1. Coronal T2-weighted fluid attenuated inversion recovery brain MRI of Patient 1 showing hyperintensity measuring 5 mm in the left anterior insular cortex (arrow).