Background: We present the case of a 65-year-old female with sudden-onset involuntary mouth opening, deviation of the jaw, facial grimacing, and tongue movements that started 6 months prior to her admission.

Case Report: She was diagnosed with oromandibular dystonia. Differential diagnosis of oromandibular dystonia and various etiologies were investigated. Neuroimaging studies revealed a left cerebellar infarction.

Discussion: To our knowledge, this case is the first oromandibular dystonia presenting with cerebellar ischemic stroke. Possible roles of the cerebellum for the pathophysiology of oromandibular dystonia are discussed.

Keywords: Dystonia, oromandibular dystonia, cerebrovascular disease

Citation: Akin A, Yilmaz R, Selcuk F, et al. Sudden onset of oromandibular dystonia after cerebellar stroke. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8C24TN

Akbostancı, M. Cenk

Akin, Alper

Selcuk, Ferda

Yilmaz, Rezzak

English

PubMed

Columbia University Academic Commons

Case ReportsSudden Onset of Oromandibular Dystonia after Cerebellar StrokeAlper Akin, Rezzak Yilmaz*, Ferda Selcuk & M. Cenk AkbostancıDepartment of Neurology, School of Medicine, Ankara University, Ankara, TurkeyAbstractBackground: We present the case of a 65-year-old female with sudden-onset involuntary mouth opening, deviation of the jaw, facial grimacing, and tonguemovements that started 6 months prior to her admission.Case Report: She was diagnosed with oromandibular dystonia. Differential diagnosis of oromandibular dystonia and various etiologies were investigated.Neuroimaging studies revealed a left cerebellar infarction.Discussion: To our knowledge, this case is the first oromandibular dystonia presenting with cerebellar ischemic stroke. Possible roles of the cerebellum for thepathophysiology of oromandibular dystonia are discussed.Keywords: Dystonia, oromandibular dystonia, cerebrovascular diseaseCitation: Akin A, Yilmaz R, Selcuk F, et al. Sudden onset of oromandibular dystonia after cerebellar stroke. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8C24TN3* To whom correspondence should be addressed. E-mail: rezzakyilmaz@yahoo.comEditor: Elan D. Louis, Columbia University, USAReceived: June 26, 2014 Accepted: August 19, 2014 Published: October 28, 2014Copyright: ’ 2014 Akin et al. This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permitsthe user to copy, distribute, and transmit the work provided that the original author(s) and source are credited; that no commercial use is made of the work; and that the work is not alteredor transformed.Funding: None.Financial Disclosures: C.A.: Consultancies: Bohringer Ingelheim, Lundbeck, Abbvie, Medtronic; Honoraria: Abbott, Abdi Ibrahim, Allergan, Bohringer Ingelheim, Gen Ilac¸,Generica, Glaxo Smith Kline, Medtronic, Lundbeck, Novartis, Ilko, Santa Farma.Conflict of Interest: The authors report no conflict of interest.IntroductionOromandibular dystonia (OMD) is a cranial segmental dystonia ofthe lips, jaw, and tongue, causing involuntary mouth closure oropening, deviation of the jaw, tongue movements, or any combinationof these due to repetitive or sustained spasms of masticatory, facial, orlingual muscles. OMD is the most frequent cranial dystonia afterblepharospasm1 and can occur in isolation or appear together withother forms of craniocervical dystonia.2 Although drug-induced, post-anoxic, neurodegenerative disorder-associated, and head injury-associated etiologies have been reported, the cause of OMD isunknown in the majority of patients. Other types of dystonia associatedwith cerebellar disease are known,3–5 but reports of OMD related tocerebellar stroke are rare.6 We present a case of OMD following acerebellar ischemic stroke.Case ReportA 65-year-old female was admitted because of involuntary mouthand tongue movements. She reported a sudden onset of gait problemsaccompanying these abnormal movements beginning 6 months priorto her referral. Her medical history revealed hypertension and diabetesmellitus. Her medication history was unremarkable for dystonia. Shehad no history of consanguineous marriage and she had seven first-degree relatives who had never experienced any neurological disease.On neurological examination she exhibited deviation of the jaw to theleft, right, or front, or a combination of these, together with lingual andperioral dystonia (Video 1). These movements were more pronouncedduring speech and chewing. The dystonic movements diminished withoral sensory feedback, such as holding a toothpick in her mouth. Herleft upper and lower extremities were dysmetric and dysdiadochoki-netic. She had slightly hyperactive deep tendon reflexes on the left sideand her gait was ataxic. Her psychiatric examination was normal. Hercomplete blood count and biochemical tests were normal, except forhigh blood sugar levels (250 mg/dL) and hyperlipidemia (low-densitylipoprotein: 176 mg/dL). Tests for ferritin, folate, and vitamin B12levels were normal. She had high blood pressure (175/90 mm/Hg).Magnetic resonance imaging (MRI) showed chronic anterior inferiorcerebellar artery infarction (Figure 1). Wilson’s disease was excludedas the Kayser–Fleischer ring was not seen on ophthalmologicFreely available onlineTremor and Other Hyperkinetic Movementshttp://www.tremorjournal.orgThe Center for Digital Research and ScholarshipColumbia University Libraries/Information Services1examination and the ceruplasmin value was normal (24.3 mg/dL). Herperipheral blood smear was normal. She was treated with electro-myographically guided botulinum toxin-A injections (BotoxH), with 10units to both masseter muscles, 5 to both digastric muscles, 15 to bothlateral pterygoidei muscles, and 5 units to the platysma muscles, whichprovided moderate benefit.DiscussionFor decades, dystonia was thought to be a disorder of the basalganglia.7 However, along with the basal ganglia, the cerebellum hasbeen shown to contribute to the pathophysiology of dystonia.8 Thiscontribution has been demonstrated in several imaging and molecularstudies, most of which were focused on primary dystonia, sheddinglight on the mechanism of the dystonic phenomenon.The problem underlying the dystonic phenomenon is now under-stood at the circuit level, namely the cerebello-thalamo-corticalnetwork.9 In macaques, the link between the dentate nucleus andthe striatum was shown by histological tract tracing.10 Another studyshowed a return pathway from the basal ganglia to the cerebellum.11Aberrant cerebellar activities in dystonic animals and decrease indystonia with the removal of the cerebellum in rats have beenreported.12In humans, the modulation of cortical excitability by cerebellaroutputs via the basal ganglia-thalamo-cortical network has beenshown.13 The GABAergic inhibition in the primary motor cortex bythe cerebello-thalamo-cortical network may be deficient in dystonia. Ithas been proposed that cerebellar outputs alter basal ganglia activity,leading to dystonic movements.14 Moreover, changes of striataldopamine levels with cerebellar stimulation8 and loss of cerebellarPurkinje cells in adult-onset primary focal dystonia have been shown.15Furthermore, reduction in the connection between the cerebellum andthe thalamus and microstructural abnormalities in the vicinity of thesuperior cerebellar peduncle have been reported in DYT mutationcarriers.16 All of these reports favor the connection of the cerebello-thalamo-cortical and basal ganglia-thalamo-cortical networks in bothanimals and humans.The cerebellum is thought to be responsible for processingproprioceptive information and changing the somatosensory thresh-olds in the cortex.17 In this sense, dystonia may be the result of theabnormal inhibition and plasticity of sensorimotor pathways.8 Indeed,lack of inhibition, sensory dysfunction, and abnormal plasticity may allbe major causes of the dystonic phenomena.18 Detection of increasedmetabolism in the cerebellum and dorsal midbrain using fluorodeox-yglucose positron emission tomography in dopa-responsive dystoniasupports this notion.19 A study with voxel-based morphometry alsofound increased gray matter volume in the cortex, basal ganglia, andcerebellum in idiopathic cervical dystonia.20Studies showing the relationship between cerebellar disease andOMD have been reported.3,4 Although the cause is not known in themajority of cases, there are some cases induced by drugs, anoxia,cerebellopontine angle meningioma, or cerebrotendinous xanthoma-tosis.21,22 On the other hand, OMD related to a cerebellar stroke hasonly been reported once: a case of late-onset OMD following acerebellar hemorrhage.6 Such late-onset dystonia following an eventhas been attributed to maladaptive plasticity. Waln and LeDoux6noted the slow development of reorganization leading to super-sensitivity and abnormal rewiring within the cerebellar nuclei. Thesereports are in accordance with the concept about abnormal plasticity.Figure 1. T1 and T2 Images. The images show chronic anterior inferior cerebellar artery infarction.Video 1. Patient with Oromandibular Dystonia. The video showsrepetitive contractions of jaw, tongue, and perioral muscles in our patient.Akin A, Yilmaz R, Selcuk C, et al. Oromandibular DystoniaTremor and Other Hyperkinetic Movementshttp://www.tremorjournal.orgThe Center for Digital Research and ScholarshipColumbia University Libraries/Information Services2We herein report a case of OMD due to ischemia of the cerebellum.To our knowledge, this case is the first report of OMD following acerebellar ischemic stroke. We argue that acute ischemia might havecaused disruption of the output from Purkinje cells, resulting in the lossof GABAergic inhibition of the motor cortex via the cerebello-thalamo-cortical network.By the time our patient was admitted, it was already 6 months sincethe beginning of the dystonic movements. She asserted that herdystonia and ataxia started simultaneously. As we had not followed thepatient from the beginning, the possibility of other etiologies alsoneeded to be discussed; in our clinical and laboratory work-up, wecould find no evidence in favor of neurodegeneration. A review of theprescription, her family history, and other neuropsychiatric features,together with MRI and blood tests, enabled us to exclude drug-induced, heredodegenerative dystonia and dystonia-plus syndromes.The main shortcoming was that we could not perform a geneticanalysis in this case. However, we thought that a diagnosis of primarydystonia was unlikely in our patient, considering her overall radiologicand clinical picture. She had a sudden-onset focal dystonia without atendency for generalization. Her age was even higher than that forlate-onset primary dystonia-like DYT 7 or 13.23 Moreover, apparentevidence for brain injury and additional cerebellar symptoms stronglysuggested secondary dystonia as a diagnosis for our case.A remarkably unusual point in our case is the instant onset ofdystonia following the stroke. It raises a possibility that the lesion andthe dystonia may be unrelated. In that case, our patient would fall intoa category of late-onset primary focal dystonia, which we believeunlikely for the reasons we have discussed above (particularly withsudden and simultaneous onset with other cerebellar stroke signs).Generally, one would expect dystonia to appear later on, due to theprocess of maladaptive plasticity, ranging from months to years.24However, although rare, it may appear in a much shorter time, such asin days.25,26 Moreover, Scott and Jankovic24 reported that the olderthe patient, the shorter the latent period between the cause and thedystonia.Nevertheless, we were cautious about believing our patient’sassertion, since it had been 6 months from the beginning of thesymptoms. If we assumed a latent period for dystonia in our patient, itstill had to be a very short period. We lost contact with the patient afterher discharge, so we are unable to confirm this statement or re-examine her. We believe that lack of latency for dystonia in our patientindicates that slow processes such as maladaptive plasticity orreorganization are unlikely as causes of OMD.Cerebellar diseases related with dystonia vary broadly in etiologybut less in the clinical outcome. Rumbach et al.3 reported a case withhemidystonia due to infarction of the posterior and superior cerebellararteries. This case had a similar but larger infarct than our case. Onemight argue that our case could have a more generalized dystonia, ifshe had had a larger lesion. Also, Alarco´n et al.4 reported a centralmass of the cerebellum with upper limb dystonia. In our patient,however, the lesion was more lateral. Our patient’s dystonia was in themouth and tongue, which were anatomically in accordance with thecerebellar homonculus.27The cellular pathophysiology of ataxia and dystonia seems to bedifferent. Lehe´ricy et al.28 proposed that dystonia may be caused bydysfunction of the cerebellum, whereas ataxia is the result ofdestruction. Furthermore, as the cerebellum has structurally differentfunctional areas, one region may be affected more severely than theother by means of ‘‘selective vulnerability,’’ resulting in the destructionof one area and distortion of the other area, yielding different clinicalpictures.15 In our patient, the ischemia was partial; she had an ataxiaalong with a focal dystonia, but we are unable to comment on whethershe would still have dystonia if she had a different lesion. Destructionin the cerebellar tissue as the cause of ataxia is more pronounced thandystonia in patients with ischemia. As studies about the cerebello-thalamo-cortical network accumulate and more cases with cerebellarstroke and OMD are reported, the exact role of the cerebellum inOMD and other focal dystonia may be elucidated.References1. Nutt JG, Muenter MD, Melton LJ, Aronson A, Kurland LT.Epidemiology of dystonia in Rochester, Minnesota. Adv Neuro 1988;50:361–365.2. Colosimo C, Suppa A, Fabbrini G, Bologna M, Berardelli A.Craniocervical dystonia: Clinical and pathophysiological features. Eur J Neurol2010;17(Suppl 1):15–21.3. Rumbach L, Barth P, Costaz A, Mas J. Hemidystonia consequent uponipsilateral vertebral artery occlusion and cerebellar infarction. Mov Disord 1995;10:522–525.4. Alarco´n F, Tolosa E, Mun˜oz E. Focal limb dystonia in a patient with acerebellar mass. Arch Neurol 2001;58:1125–1127.5. Tranchant C, Maquet J, Eber AM, Dietemann JL, Franck P, Warter JM.Cerebellar cavernous angioma, cervical dystonia and crossed cortical diaschisis.Rev Neurol 1991;147:599–602.6. Waln O, LeDoux MS. Delayed-onset oromandibular dystonia after acerebellar hemorrhagic stroke. Parkinsonism Relat Disord 2010;16:623–625.7. Marsden CD, Quinn NP. The dystonias. BMJ 1990;300:139–144.8. Neychev VK, Fan X, Mitev VI, Hess EJ, Jinnah HA. The basal gangliaand cerebellum interact in the expression of dystonic movement. Brain 2008;131:2499–2509.9. Niethammer M, Carbon M, Argyelan M, Eidelberg D. Hereditarydystonia as a neurodevelopmental circuit disorder: Evidence from neuroima-ging. Neurobiol Dis 2011;42:202–209.10. Hoshi E, Tremblay L, Feger J, Carras PL, Strick PL. The cerebellumcommunicates with the basal ganglia. Nat Neurosci 2005;8:1491–1493.11. Bostan AC, Strick PL. The cerebellum and basal ganglia areinterconnected. Neuropsychol Rev 2010;20:261–270.12. LeDoux MS, Lorden JF, Ervin JM. Cerebellectomy eliminates the motorsyndrome of the genetically dystonic rat. Exp Neurol 1993;120:302–310.13. Daskalakis ZJ, Paradiso GO, Christensen BK, et al. Exploring theconnectivity between the cerebellum and motor cortex in humans. J Physiol2004;557:689–700.14. Neychev VK, Gross RE, Lehe´ricy S, et al. The functional neuroanatomyof dystonia. 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Draganski B, Thun-Hohenstein C, Bogdahn U, et al. ‘‘Motor circuit’’gray matter changes in idiopathic cervical dystonia. Neurology 2003;61:1228–1231.21. Alcalay R, Wu S, Patel S, et al. Oromandibular dystonia as acomplication of cerebrotendinous xanthomatosis. Mov Disord 2009;24:1397–1399.22. Persing JA, Muir A, Becker DG, et al. Blepharospasm-oromandibulardystonia associated with a left cerebellopontine angle meningioma. J Emerg Med1990;8:571–574.23. Schmidt A, Klein C. The role of genes in causing dystonia. Eur J Neurol2010;17(Suppl 1):65–70.24. Scott BL, Jankovic J. Delayed-onset progressive movement disordersafter static brain lesions. Neurology 1996;46:68–74.25. Krauss JK, Mohadjer M, Braus DF, Mundinger F. Dystonia followinghead trauma: A report of nine patients and review of the literature. Mov Disord1992;7:263–272.26. O’Rourke K, O’Riordan S, Gallagher J, Hutchinson M. Paroxysmaltorticollis and blepharospasm following bilateral cerebellar infarction. 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Sudden Onset of Oromandibular Dystonia after Cerebellar Stroke

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Sudden Onset of Oromandibular Dystonia after Cerebellar Stroke

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