HEMIFACIAL SPASM IN LATE-ONSET : A CASE REPORT AND LITERATURE REVIEW

Authors: Abstract

E. Onesti1 Movement disorders are rare manifestations of late-onset multiple sclerosis (LOMS). The V. Frasca2 clinical case of a 62-years old man with an M. Inghilleri3 acute onset of unilateral, sustained, irregular, 1Department of Neurology and Psychiatry, brief contracture in his left-side facial Sapienza University, Rome, Italy muscles is presented. Clinical, E-mail: [email protected] neurophysiological and neuroimaging exams allowed a diagnosis of hemifacial spasm 2Department of Neurology and Psychiatry, (HFS) in MS. Specifically, needle Sapienza University, Rome, Italy revealed repetitive motor E-mail: [email protected] unit action potentials firing at high frequency 3 Department of Neurology and Psychiatry, discharge (100-150 Hz) in the affected facial Sapienza University, Rome, Italy muscles, suggesting that demyelinating E-mail: [email protected] lesion involved the lower facial motor neurons in the intra-axial exit zone. Blink Corresponding Author: reflex findings confirmed the efferent Prof. Maurizio Inghilleri demyelinating . In literature, HFS Department of Neurology and Psychiatry explicitly associated with MS are described, Viale dell’Università 30 - 00185 Rome but not as one of the first presentation University of Rome “Sapienza” symptoms of LOMS. A careful Phone number: +39-06 49914120 neurophysiological evaluation can modify Fax number: +39-06-49914120 the interpretation of an atypical clinical Email address: presentation, allowing to establish the [email protected] specific anatomical location, the extent of injury, and the most appropriate treatment.

Keywords: Hemifacial spasm; Multiple

Sclerosis; Late-onset multiple sclerosis; HFS;

LOMS.

Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review

1. Introduction progressive [9,12-14]. Some reports

Multiple sclerosis (MS) is an describe motor symptoms as initial signs autoimmune inflammatory demyelinating [4,9], while others find no differences disease of the central nervous system with between LOMS and young-onset MS a wide range of symptoms, depending on population [13,15]. the location of lesions, and several Involuntary movement disorders are pathophysiological mechanisms such as rare in MS, affecting about 1.6% of inflammation, demyelination, oxidative patients [16]. Tremor is the most frequent injury, axonal damage, remyelination, and movement disorder in MS [17]. Other gliosis. The diagnosis of MS involves movement disorders are paroxysmal dissemination of the lesions in time and dystonia, chorea, ballism, myoclonus, space [1]. Patients develop a tourettism, restless leg syndrome and heterogeneous phenotypic expression of hemifacial spasm (HFS). disease even at the same stage of the In this study, a case report of MS illness. The most frequent disturbances are with HFS due to a demyelization plaque transient or persistent pyramidal, sensory, encasing the facial at its intra-axial cerebellar signs, visual dysfunction, exit zone is presented. MRI findings are fatigue and sphincteric impairment, exhibited and the clinical features are leading often to important neurological shown. disability. MS occurs usually in young adults, with disease onset between 20 and 2. Case report 40 years [2,3]. However, in up to 6% of A 62-years-old man presented an cases, the first symptoms occur after the acute onset of sustained, unilateral, age of 50 years [4-11]. In the late-onset irregular brief contracture of the left-side cases, correct diagnosis is frequently facial muscles. He noticed also sub delayed whilst other possible diagnosis continuous twitch-like movements in the are being considered. The clinical course left corner of the mouth. The disturbance of late-onset MS (LOMS) to eliminate the was spontaneous and persisted during entire line can be not necessarily sleep. Symptoms were frequently

Copyright 2016 KEI Journals. All Rights Reserved Page │2 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review aggravated by stress, fatigue, anxiety, and normal; needle electromyography voluntary facial movements. Familial examination of the left orbicularis oris history was unremarkable. Since his revealed continuous resting activity of adolescence, he presented migraine with irregularly firing motor unit potentials visual aura. When the patient was 60 years (MUPs). Typical MUPs firing repetitively old (two years before the clinical at high frequency discharge (100-150 Hz) observation), he presented a visual in the affected facial muscles detected by disorder with a scotoma in the inferior electromyographic exam suggested that part of his visual field. He did not perform the lesion involved the lower motor any medical exam, and the disturbance neuron (Figure 1). Blink reflex findings reversed spontaneously in about three were consistent with an efferent weeks. demyelinating injury (see Table). Visual

Three weeks after the beginning of evoked potentials showed a delayed P1 the involuntary facial movement, the wave conduction in the right eye; motor patient referred to the Department of evoked potentials resulted normal, while Neurology and Psychiatry, at the Center somatosensory evoked potentials by left of in Umberto I posterior tibial nerve showed poorly Hospital (University of Rome “Sapienza”) formed P by cortical responses. The for investigation. On admission, patient underwent high resolution 1.5- neurological examination showed Tesla brain and spinal cord MRI study undulating and rippling twitch-like with T2-weighted, FLAIR and T1- movements of lower facial muscles, weighted images acquired in the sagittal, associated with brief contracture of the axial and coronal planes; contrast- left-side facial muscles producing enhanced images were also obtained. The MRI study showed a small, non- drowning upward the angle of the mouth and prominence of the naso-labial fold. enhancing lesion adjacent to the left-side Subclinical left pyramidal signs were brain stem, near to the left emerging fibers present. Laboratory tests including routine of the at the level of pons; blood tests and auto-antibody profile were other small multiple supra- and infra- tentorial white matter brain lesions

Copyright 2016 KEI Journals. All Rights Reserved Page │3 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review

(involving periventricular areas, frontal the equivalent side of the face [18]. The and parietal right lobes) were present spasms usually start as ‘‘twitching’’ of the (Figure 2). Moreover, three focal lesions lower eyelid, followed by involvement of in the spinal cord (cervical and dorsal the other muscles, leading to social posterolateral left side level) were uneasiness and interference with vision. observed. No lesions were enhanced by Two ethiopathological theories are gadolinium. A diagnosis of MS with HFS commonly proposed. One hypothesis caused by demyelination in the emerging provides that a pulsatile compression fibers of the facial nerve was done. causes focal demyelination at the junction Chronic treatment with 200 mg between the central and peripheral , two times per day resulted in rapidly producing ephaptic neural impulses that progressive reduction of HFS symptoms. travel down the facial nerve to the facial Almost complete recovery after 6 months muscles. A second theory states that of clinical follow-up was observed. pulsations cause antidromic stimulation of the facial nucleus, generating epileptic 3. Discussion activity in the same facial nucleus, causing hyperexcitability and aberrant facial nerve In this case report, clinical and activity. Other infrequently (less than 2%) electrophysiological features permitted a causes of root compression are identified, diagnosis of HFS with involvement of the such as cerebello-pontine angle masses, lower facial muscles due to a plaque of intracranial tumors, lesions in temporal demyelination in the emerging fibers of bone or parotid gland, and Lyme disease. the facial nerve. Some cases of facial in HFS is a movement disorder MS patients have been described characterized by unilateral, involuntary, [17,18,19-22]. Several events were irregular, painless, clonic or tonic associated with lesions in the region of the movement of muscles innervated by the ipsilateral facial nucleus, and with supra- ipsilateral seventh cranial nerve tentorial demyelinating lesions, while (orbicularis oculi, paranasal, perioral and others did not have brainstem lesions but platysma), with synchronous spasms of

Copyright 2016 KEI Journals. All Rights Reserved Page │4 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review responded to intravenous methyl- recordings showed typical myokimic prednisolone [17,19,20,21]. A case of discharges. Moreover, in the present bilateral alternating HFS has also been clinical case, the presence of high- described in association with MS [23]. To frequency discharges (of normal- the best of our knowledge, in literature, appearing MUP of 100-150 Hz) during HFS explicitly associated with MS are needle EMG allows to exclude myokymic described, but not as first presentation discharges, although it is not possible symptoms of LOMS [21,24,25]. The most stated that they were absent throughout common clinical presentation at onset in the entire clinical episode. HFS could be LOMS are motor symptoms (63%) and arguably attributed to axonal damage of sensory disorders (30%); brainstem the facial neurons due to demyelination of dysfunction occurred in 20% of patients, the intra-axial pontine exit zone of facial sphincteric and cerebellar involvement in fibers. In the described patient, anatomical 17% and 10% respectively, optic neuritis correlation evidenced with the in 13%, and cognitive disturbances in 3% neuroimaging, and fast clinical response [8]. Most of the LOMS patients present to sodium channel-blocking antiepileptic further neurological deficits and only 13% drug phenytoin, suggests that HFS is remains monosymptomatic [4,7,8]. secondary to MS. While imaging studies Clinically, distinguishing the feature of such as MRI may not detect the HFS from other causes of involuntary demyelination nature and slight structural facial movements, such as facial tic, abnormalities in the brain when the insult myokymia, and tardive dyskinesia is is minor or diffuse, neurophysiological important [26]. A particular differential testing can identify more specifically the diagnosis in MS is with the facial structural brain abnormalities. In this myokymia, a rare involuntary continuous report, EMG recordings from the left vermicular movement extending across hemiface at rest, showing a continuous facial muscles [20]. Slight sustained facial activity of irregularly firing MUPs in the contraction and paresis with significant left orbicularis oculi and orbicularis oris, myokymia have been described in MS and the results of the blink reflex studies, [22]. In these cases the electromyography suggest a lesion in the efferent facial

Copyright 2016 KEI Journals. All Rights Reserved Page │5 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review fibers at level of their intra-axial pontine recordings. MS with clinical onset after 50 zone. The paroxysms are usually years of age can also be characterized by considered the result of a level of HFS and not only by myokimic discharges demyelination insufficient to give as usually reported in MS. The clinical persistent deficit, but making suspect should exist in the presence of hypersensitive to minor stresses [27]. high frequency discharges and the absence Moreover, a simultaneous supranuclear of vermicular movements or continuous dishinibition given by supra-tentorial movements rippling. lesions should be excluded, because of the high-frequency discharges, the increased Acknowledgments: The Authors latency, and the absence of myokymic would like to thank the patient who discharges. consented to the publishing of this case In conclusion, in the present clinical report. case, HFS was due to an injury of the Disclosure of conflicts of interests: efferent fibers of the facial nerve in their None of the authors have potential intra-axial pontine exit zone caused by a conflicts of interest to be disclosed. plaque of demyelination, such as confirmed by electromyographic Funding Sources: None

Copyright 2016 KEI Journals. All Rights Reserved Page │6 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review

References

1. Polman CH, Reingold SC, Banwell B, the literature. Eur Neurol. et al. Diagnostic criteria for multiple 1994;34(6):332-36 [Pubmed: sclerosis: 2010 revisions to the 7851455].

McDonald criteria. Ann Neurol. 8. Polliack ML, Barak Y, Achiron A. 2011;69:292–302 [Pubmed: Late-onset multiple sclerosis. J Am 21387374]. Geriatr Soc. 2001;49(2):168-71

2. Poser S, Raun NE, Poser W. Age at [Pubmed: 11207871].

onset, initial symptomatology and the 9. Delalande S, De Seze J, Ferriby D, et course of multiple sclerosis. Acta al. Late onset multiple sclerosis. Rev Neurol Scand. 1982;66:355–62 Neurol (Paris). 2002;158(11):1082-87 [Pubmed: 7136498]. [Pubmed: 12451340].

3. Weinshenker BG, Bass B, Rice GP, et 10. Martinelli V, Rodegher M, Moiola L, al. The natural history of multiple et al. Late onset multiple sclerosis: sclerosis: a geographically based clinical characteristics, prognostic study. I. Clinical course and disability. factors and differential diagnosis. Brain. 1989;112(Pt 1):133-46 Neurol Sci. 2004;25(4):S350-55 [Pubmed: 2917275]. [Pubmed: 15727232].

4. Noseworthy J, Paty D, Wonnacott T, 11. Kis B, Rumberg B, Berlit P. Clinical et al. Multiple sclerosis after age 50. characteristics of patients with late- Neurology. 1983;33(12):1537-44 onset multiple sclerosis. J Neurol. [Pubmed: 6606140]. 2008;255(5):697-702 [Pubmed:

5. Marra TR. Multiple sclerosis with 18283394].

onset after age 60. J Am Geriatr Soc. 12. Fernández-Concepción O, Gómez- 1984;32:16–18 [Pubmed: 6197435]. Garcia AO, Martínez-Sobrepera HJ.

6. Hooge JP, Redekop WK. Multiple Late-onset multiple sclerosis with sclerosis with very late onset. benign course. Report of a case. Rev Neurology. 1992;42(10):1907-10 Neurol. 2001;33(1):94 [Pubmed: [Pubmed: 1407571]. 11686144].

7. Azzimondi G, Stracciari A, Rinaldi R, 13. Tremlett H, Devonshire V. Is late- et al. Multiple sclerosis with very late onset multiple sclerosis associated onset: report of six cases and review of with a worse outcome? Neurology.

Copyright 2016 KEI Journals. All Rights Reserved Page │7 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review

2006;67(6):954-59 [Pubmed: Surg. 1991;117(5):554-56 [Pubmed: 17000960]. 1850603].

14. Cossburn M, Ingram G, Hirst C, et al. 20. Sarrigiannis P, Tsakanicas C, Age at onset as a determinant of Anagnostouli M, et al. Spastic paretic presenting phenotype and initial hemifacial contracture (SPHC) in a relapse recovery in multiple sclerosis. patient with multiple sclerosis. A Mult Scler. 2012;18(1):45-54. clinical, EMG and neuroimaging [Pubmed: 21865412]. study. Neurophysiol Clin. 2004;34(3- 4):147-51 [Pubmed: 15501684]. 15. Lyon-Caen O, Izquierdo G, Marteau R, et al. Late onset multiple sclerosis. 21. Koutsis G, Kokotis P, Sarrigiannis P, A clinical study of 16 pathologically et al. Spastic paretic hemifacial proven cases. Acta Neurol Scand. contracture in multiple sclerosis: a 1985;72(1):56-60 [Pubmed: 4050317]. neglected clinical and EMG entity. Mult Scler. 2008;14(7):927-32 16. Poser CM, Brinar BB. Diagnostic [Pubmed: 18573838]. criteria for multiple sclerosis. Clin Neurol Neurosur. 2001; 103:1-11 22. Mehanna R, Jankovic J. Movement [Pubmed: 11311469]. disorders in multiple sclerosis and other demyelinating diseases. J Neurol 17. Nociti V, Bentivoglio AR, Frisullo G, Sci. 2013;328(1-2):1-8 [Pubmed: et al. Movement disorders in multiple 23522528]. sclerosis: causal or coincidental association? Mult Scler. 23. Van de Biezenbos JB, Horstink MW, 2008;14:1284–87 [Pubmed: van de Vlasakker CJ, et al. A case of 18768580]. bilateral alternating hemifacial spasms. Mov Disord. 1992;7:68–70 18. Yaltho TC, Jankovic J. The many [Pubmed: 1557068]. faces of hemifacial spasm: differential diagnosis of unilateral facial spasms. 24. Schnorpfeil F, Braune HJ. Nuclear Mov Disord. 2011;26:1582–92 facial palsy in multiple sclerosis: a [Pubmed: 21469208]. case report. Electromyogr Clin Neurophysiol. 1997;37(4):207-11 19. Telischi FF, Grobman LR, Sheremata [Pubmed: 9208215]. WA, et al. Hemifacial spasm. Occurrence in multiple sclerosis. Arch 25. Tacconi P, Peltz MT, Lorefice L, et al. Otolaryngol Head Neck Facial synkinesis as a first symptom of

Copyright 2016 KEI Journals. All Rights Reserved Page │8 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review

multiple sclerosis. Mult Scler. literature. Folia Neuropathol. 2016;22(11):1499-1501 [Pubmed: 2014;52(1):92-100 [Pubmed: 26245215]. 24729346].

26. Potulska-Chromik A, Rudzinska M, 27. Espir M, Millac P. Paroxysmal brain Nojszewska M, et al. Clinical and stem dysfunction in multiple sclerosis. neuroimaging correlation of Br Med J. 1976; 18(2):1503 [Pubmed: movement disorders in multiple 1000269]. sclerosis: case series and review of the

Copyright 2016 KEI Journals. All Rights Reserved Page │9 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review

Figure 1. Typical motor unit action potentials firing repetitively at high frequency discharge in the affected facial muscles detected by electromyography. Particular of the needle EMG recording from the orbicularis oris representing the high-frequency discharges of the same motor unit. Horizontal calibration, 10 ms; vertical calibration, 100 μV.

Copyright 2016 KEI Journals. All Rights Reserved Page │10 Medical Research Archives, Vol. 4, Issue 7, November 2016 Hemifacial spasm in late-onset multiple sclerosis: A case report and literature review

Figure 2. MRI performed with the T2-weighted sequence in the axial plain shows a non- enhancing lesion adjacent to the left-side brain stem compatible with demyelinating lesion.

Table 1. Patient’s blink reflex study. Surface recording electrodes were placed over the inferior orbicularis-oculi muscles bilaterally. Supraorbital nerve was stimulated in the superior orbital fissure with supramaximal stimulation. Latencies are expressed in millisecond (ms).

RIGHT STIMULATION LEFT STIMULATION

R1 (ms) latency 10.2 13.5 R2 direct (ms) latency 38.2 45 R2 crossed (ms) latency 46.4 38

Copyright 2016 KEI Journals. All Rights Reserved Page │11