Journal of the Neurological Sciences 340 (2014) 239–240
Contents lists available at ScienceDirect
Journal of the Neurological Sciences journal homepage: www.elsevier.com/locate/jns
Letter to the Editor
Corticosteroid-responsive torticollis as a presenting symptom of multiple sclerosis Benjamin Berger a,⁎, Michel Rijntjes a, Lena Stehlin b, Oliver Stich a a b
University Hospital Freiburg, Department of Neurology and Neurophysiology, Breisacher Strasse 64, D-79106 Freiburg, Germany University Hospital Freiburg, Department of Neuroradiology, Breisacher Strasse 64, D-79106 Freiburg, Germany
a r t i c l e
i n f o
Article history: Received 4 January 2014 Received in revised form 15 February 2014 Accepted 18 February 2014 Available online 24 February 2014
a b s t r a c t Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system that rarely presents with movement disorder symptoms upon primary manifestation. We report the case of a 45-year-old patient with no history of any medical condition who presented to our clinic with left-sided torticollis. Interestingly, MRI scan of the brain revealed multiple periventricular T2 hyperintense lesions. Analysis of cerebrospinal fluid (CSF) showed that cell numbers and protein concentration were normal, while oligoclonal IgG synthesis was suggestive of chronic intrathecal inflammation. Therefore, clinically isolated syndrome (CIS) was diagnosed as a primary manifestation of relapsing–remitting MS. In the MRI scans, one lesion was found to be localized to the right cerebral peduncle, thus providing a potential link between torticollis and the autoimmune disorder. Furthermore, the symptoms were completely resolved with corticosteroid treatment alone. This is to our knowledge the first description of an MS case in which the sole primary manifestation was torticollis that could be completely resolved with corticosteroid treatment. We therefore suggest performing a cerebral MRI scan with particular focus on demyelinating lesions in patients with focal dystonia, since there is an increasing number of reports describing MS as a potential cause of secondary dystonia. Notably, early corticosteroid therapy might resolve symptoms. © 2014 Elsevier B.V. All rigths reserved.
1. Introduction Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system. Typical presenting symptoms include sensory disturbances, motor paresis, optic neuritis, and eye motility disorders [2]. Apart from tremor, movement disorders are rare in MS and have only been described in 1.6% of patients [3].
2. Case report A 45-year-old female patient was admitted to our hospital due to involuntary twisting of the head to the right. Symptoms started three weeks prior to admission, without preceding infection. She had no past medical conditions (including no neurological symptoms), and no history of medication intake (e.g. neuroleptic drugs). Analysis of the family medical history revealed a complete lack of neurological and autoimmune disorders. Upon examination, the patient had torticollis with paroxysmal contractions of the left sternocleidomastoid muscle, ⁎ Corresponding author. Tel.: +49 761 50010; fax: +49 761 53380. E-mail address: [email protected] (B. Berger).
http://dx.doi.org/10.1016/j.jns.2014.02.021 0022-510X/© 2014 Elsevier B.V. All rigths reserved.
which could be relieved by touching the left cheek. The clinical examination was otherwise normal. Visually-evoked potentials were normal, whereas somatosensory evoked potentials as well as transcranial magnetic stimulation showed a central conduction deficit on the right side. Laboratory tests for antinuclear, antineutrophil cytoplasmic and antiphospholipid antibodies were negative. Furthermore, we ruled out Wilson's disease, autoimmune encephalitis (antibodies against voltagegated calcium channels (LGI1, CASPR2), GABAB-, NMDA- and AMPAreceptors), paraneoplastic disease (antibodies against Hu, Yo, Ri, CV2/ CRMP5, Amphiphysin, Ma1, Ma2, SOX1 and GAD), chorea minor, and infections with either Borrelia or Treponema pallidum. Cerebral magnetic resonance image (MRI) scanning revealed multiple T2-hyperintense periventricular lesions; in particular, one lesion was observed in the right cerebral peduncle and another in the right parietal lobe, the latter with gadolinium enhancement (Fig. 1). Analysis of the patient's cerebrospinal fluid (CSF) revealed that cell numbers and protein concentration were both normal, whereas the presence of oligoclonal IgG bands was suggestive of chronic intrathecal inflammation. Since these results fulfilled the current diagnostic criteria (including MRI criteria) for MS, we diagnosed a clinically isolated syndrome (CIS) as the primary manifestation of relapsing–remitting MS [5]. Thus, three days of intravenous methylprednisolone (1000 mg) treatment was initiated, followed by
240
Letter to the Editor
a
3. Discussion
b
Although we cannot rule out a random coincidence between torticollis and the first clinical onset of MS [5], the fact that the torticollis was completely ameliorated after corticosteroid treatment suggests that this form of dystonia was secondary to the underlying inflammatory disease. Most other reports describe the manifestation of dystonia in MS patients who had suffered previous attacks with pathognomonic signs of the disease. Furthermore, in cases where dystonia was present upon primary manifestation of MS, it was usually accompanied by typical MS symptoms [3]. However, in these reported cases, torticollis did not significantly improve with corticosteroids, thus requiring additional treatments (e.g. injections of botulinum toxin A). The underlying pathophysiological mechanisms of torticollis in MS patients have previously been attributed to lesions in the cervical spinal cord, brainstem and pyramidal tract [3]. This suggests that the right cerebral peduncle lesion in our patient was potentially responsible for her torticollis [4]. A transcranial magnetic stimulation study further supports the hypothesis that demyelinating lesions at any level in the motor fiber tracts can underlie torticollis [6]. In contrast, Delgado et al. found anti-basal ganglia antibodies in a MS patient with cervical dystonia and parkinsonism [1]. In summary, this is the first description of a case in which torticollis was the sole primary manifestation of MS and could be completely resolved with corticosteroid treatment. Given the increasing number of reports describing MS as a potential cause of secondary dystonia, we recommend performing a cerebral MRI scan with particular focus on demyelinating lesions in patients with focal dystonia. Indeed, early corticosteroid therapy might resolve symptoms.
c
Conflicts of interest OS reports receiving consulting and lecture fees, grant and research support from Bayer Vital GmbH, Biogen Idec, Merck Serono, Novartis, Sanofi and Genzyme. BB, MR and LS declare that they have no financial disclosures. None of the authors has any financial or personal relationships with individuals or organizations that could inappropriately influence this publication. Acknowledgments We thank Sandra Dieni for assistance with editing the text. References
Fig. 1. Cerebral MRI scan of a 45-year-old patient with left-sided torticollis. (a) Axial T2-weighted sequence with multiple periventricular hyperintense lesions. (b) Axial T2-weighted sequence showing a lesion in the right cerebral peduncle (black arrow). (c) Axial T1-weighted sequence with one right parietal contrast-enhancing lesion after application of gadolinium (black arrow).
oral tapering for 14 days. At the three month follow-up visit, the torticollis had completely resolved. The patient reported no new symptoms and the clinical examination was normal.
[1] Delgado S, Baez S, Singer C, Sengun C, Sheremata WA, Papapetropoulos S. Parkinsonism/ dystonia syndrome secondary to multiple sclerosis with anti-basal-ganglia antibodies. Mov Disord 2009;24:309–11. [2] Keegan BM, Noseworthy JH. Multiple sclerosis. Annu Rev Med 2002;53:285–302. [3] Mehanna R, Jankovic J. Movement disorders in multiple sclerosis and other demyelinating diseases. J Neurol Sci 2013;328:1–8. [4] Plant GT, Kermode AG, du Boulay EP, McDonald WI. Spasmodic torticollis due to a midbrain lesion in a case of multiple sclerosis. Mov Disord 1989;4:359–62. [5] Polman CH, Reingold SC, Banwell B, Clanet M, Cohen JA, Filippi M, et al. Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol 2011;69:292–302. [6] Trompetto C, Avanzino L, Bove M, Buccolieri A, Uccelli A, Abbruzzese G. Investigation of paroxysmal dystonia in a patient with multiple sclerosis: a transcranial magnetic stimulation study. Clin Neurophysiol 2008;119:63–70.
Contents lists available at ScienceDirect
Journal of the Neurological Sciences journal homepage: www.elsevier.com/locate/jns
Letter to the Editor
Corticosteroid-responsive torticollis as a presenting symptom of multiple sclerosis Benjamin Berger a,⁎, Michel Rijntjes a, Lena Stehlin b, Oliver Stich a a b
University Hospital Freiburg, Department of Neurology and Neurophysiology, Breisacher Strasse 64, D-79106 Freiburg, Germany University Hospital Freiburg, Department of Neuroradiology, Breisacher Strasse 64, D-79106 Freiburg, Germany
a r t i c l e
i n f o
Article history: Received 4 January 2014 Received in revised form 15 February 2014 Accepted 18 February 2014 Available online 24 February 2014
a b s t r a c t Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system that rarely presents with movement disorder symptoms upon primary manifestation. We report the case of a 45-year-old patient with no history of any medical condition who presented to our clinic with left-sided torticollis. Interestingly, MRI scan of the brain revealed multiple periventricular T2 hyperintense lesions. Analysis of cerebrospinal fluid (CSF) showed that cell numbers and protein concentration were normal, while oligoclonal IgG synthesis was suggestive of chronic intrathecal inflammation. Therefore, clinically isolated syndrome (CIS) was diagnosed as a primary manifestation of relapsing–remitting MS. In the MRI scans, one lesion was found to be localized to the right cerebral peduncle, thus providing a potential link between torticollis and the autoimmune disorder. Furthermore, the symptoms were completely resolved with corticosteroid treatment alone. This is to our knowledge the first description of an MS case in which the sole primary manifestation was torticollis that could be completely resolved with corticosteroid treatment. We therefore suggest performing a cerebral MRI scan with particular focus on demyelinating lesions in patients with focal dystonia, since there is an increasing number of reports describing MS as a potential cause of secondary dystonia. Notably, early corticosteroid therapy might resolve symptoms. © 2014 Elsevier B.V. All rigths reserved.
1. Introduction Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system. Typical presenting symptoms include sensory disturbances, motor paresis, optic neuritis, and eye motility disorders [2]. Apart from tremor, movement disorders are rare in MS and have only been described in 1.6% of patients [3].
2. Case report A 45-year-old female patient was admitted to our hospital due to involuntary twisting of the head to the right. Symptoms started three weeks prior to admission, without preceding infection. She had no past medical conditions (including no neurological symptoms), and no history of medication intake (e.g. neuroleptic drugs). Analysis of the family medical history revealed a complete lack of neurological and autoimmune disorders. Upon examination, the patient had torticollis with paroxysmal contractions of the left sternocleidomastoid muscle, ⁎ Corresponding author. Tel.: +49 761 50010; fax: +49 761 53380. E-mail address: [email protected] (B. Berger).
http://dx.doi.org/10.1016/j.jns.2014.02.021 0022-510X/© 2014 Elsevier B.V. All rigths reserved.
which could be relieved by touching the left cheek. The clinical examination was otherwise normal. Visually-evoked potentials were normal, whereas somatosensory evoked potentials as well as transcranial magnetic stimulation showed a central conduction deficit on the right side. Laboratory tests for antinuclear, antineutrophil cytoplasmic and antiphospholipid antibodies were negative. Furthermore, we ruled out Wilson's disease, autoimmune encephalitis (antibodies against voltagegated calcium channels (LGI1, CASPR2), GABAB-, NMDA- and AMPAreceptors), paraneoplastic disease (antibodies against Hu, Yo, Ri, CV2/ CRMP5, Amphiphysin, Ma1, Ma2, SOX1 and GAD), chorea minor, and infections with either Borrelia or Treponema pallidum. Cerebral magnetic resonance image (MRI) scanning revealed multiple T2-hyperintense periventricular lesions; in particular, one lesion was observed in the right cerebral peduncle and another in the right parietal lobe, the latter with gadolinium enhancement (Fig. 1). Analysis of the patient's cerebrospinal fluid (CSF) revealed that cell numbers and protein concentration were both normal, whereas the presence of oligoclonal IgG bands was suggestive of chronic intrathecal inflammation. Since these results fulfilled the current diagnostic criteria (including MRI criteria) for MS, we diagnosed a clinically isolated syndrome (CIS) as the primary manifestation of relapsing–remitting MS [5]. Thus, three days of intravenous methylprednisolone (1000 mg) treatment was initiated, followed by
240
Letter to the Editor
a
3. Discussion
b
Although we cannot rule out a random coincidence between torticollis and the first clinical onset of MS [5], the fact that the torticollis was completely ameliorated after corticosteroid treatment suggests that this form of dystonia was secondary to the underlying inflammatory disease. Most other reports describe the manifestation of dystonia in MS patients who had suffered previous attacks with pathognomonic signs of the disease. Furthermore, in cases where dystonia was present upon primary manifestation of MS, it was usually accompanied by typical MS symptoms [3]. However, in these reported cases, torticollis did not significantly improve with corticosteroids, thus requiring additional treatments (e.g. injections of botulinum toxin A). The underlying pathophysiological mechanisms of torticollis in MS patients have previously been attributed to lesions in the cervical spinal cord, brainstem and pyramidal tract [3]. This suggests that the right cerebral peduncle lesion in our patient was potentially responsible for her torticollis [4]. A transcranial magnetic stimulation study further supports the hypothesis that demyelinating lesions at any level in the motor fiber tracts can underlie torticollis [6]. In contrast, Delgado et al. found anti-basal ganglia antibodies in a MS patient with cervical dystonia and parkinsonism [1]. In summary, this is the first description of a case in which torticollis was the sole primary manifestation of MS and could be completely resolved with corticosteroid treatment. Given the increasing number of reports describing MS as a potential cause of secondary dystonia, we recommend performing a cerebral MRI scan with particular focus on demyelinating lesions in patients with focal dystonia. Indeed, early corticosteroid therapy might resolve symptoms.
c
Conflicts of interest OS reports receiving consulting and lecture fees, grant and research support from Bayer Vital GmbH, Biogen Idec, Merck Serono, Novartis, Sanofi and Genzyme. BB, MR and LS declare that they have no financial disclosures. None of the authors has any financial or personal relationships with individuals or organizations that could inappropriately influence this publication. Acknowledgments We thank Sandra Dieni for assistance with editing the text. References
Fig. 1. Cerebral MRI scan of a 45-year-old patient with left-sided torticollis. (a) Axial T2-weighted sequence with multiple periventricular hyperintense lesions. (b) Axial T2-weighted sequence showing a lesion in the right cerebral peduncle (black arrow). (c) Axial T1-weighted sequence with one right parietal contrast-enhancing lesion after application of gadolinium (black arrow).
oral tapering for 14 days. At the three month follow-up visit, the torticollis had completely resolved. The patient reported no new symptoms and the clinical examination was normal.
[1] Delgado S, Baez S, Singer C, Sengun C, Sheremata WA, Papapetropoulos S. Parkinsonism/ dystonia syndrome secondary to multiple sclerosis with anti-basal-ganglia antibodies. Mov Disord 2009;24:309–11. [2] Keegan BM, Noseworthy JH. Multiple sclerosis. Annu Rev Med 2002;53:285–302. [3] Mehanna R, Jankovic J. Movement disorders in multiple sclerosis and other demyelinating diseases. J Neurol Sci 2013;328:1–8. [4] Plant GT, Kermode AG, du Boulay EP, McDonald WI. Spasmodic torticollis due to a midbrain lesion in a case of multiple sclerosis. Mov Disord 1989;4:359–62. [5] Polman CH, Reingold SC, Banwell B, Clanet M, Cohen JA, Filippi M, et al. Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol 2011;69:292–302. [6] Trompetto C, Avanzino L, Bove M, Buccolieri A, Uccelli A, Abbruzzese G. Investigation of paroxysmal dystonia in a patient with multiple sclerosis: a transcranial magnetic stimulation study. Clin Neurophysiol 2008;119:63–70.
