Hemifacial spasm is a common peripheral movement disorder that usually results from neurovascular conflict involving the facial nerve motor root exit zone. Although it is a sporadic disease, some cases of familial clustering have been reported. In this case report, we present a case of familial occurrence of hemifacial spasm with dolichoectasia of the vertebrobasilar system in three siblings. The patients responded well to botulinum toxin therapy. A genetic mechanism predisposing them to vascular abnormalities is likely to be responsible for the clinical–radiological picture in our patients.
Keywords: Dolichoectasia, genetic predisposition, hemifacial spasm, movement disorder
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Patel K, Vijayaraghavan A, Krishnan S, Puthenveedu DK, Cherian A. Hemifacial spasm resulting from vertebrobasilar dolichoectasia in three siblings: A case report. Ann Mov Disord [Epub ahead of print] [cited 2022 Aug 18]. Available from: https://www.aomd.in/preprintarticle.asp?id=351320
| Introduction|| |
Hemifacial spasm (HFS) is a facial dyskinesia characterized by unilateral, irregular, and involuntary tonic or clonic contractions of the muscles innervated by the facial nerve. It can occur intermittently or continually; it is rarely bilateral. In general, HFS is a sporadic condition and occurs as a result of compression of the facial nerve root exit zone (REZ) by the intracranial arteries. However, it can sometimes result from cerebellopontine angle tumors, meningitis, and multiple sclerosis. Reports on familial cases of HFS are scarce.,,,,,,,, Most of the patients with familial HFS had vascular anomalies. In this report, we present the case of three siblings from a south Indian family who presented with HFS. All three patients demonstrated vascular anomalies and ectasia involving the intracranial vessels.
| Case Report|| |
A 54-year-old man presented with a 6-month history of abnormal jerk-like and tonic contractions in the right side of his face. It predominantly involved the angle of his mouth and right eyelid, leading to deviation of the angle of the mouth and involuntary closure of the eye. The contractions persisted for a few seconds, and he experienced multiple episodes per day. He had no comorbidities except well-controlled hypertension. His renal artery doppler test results, performed at another institution, were normal. Neurological examination was normal except for right-sided HFS. There was no evidence of facial weakness, facial sensory loss, or tinnitus. Magnetic resonance imaging of the brain showed dolichoectasia of the vertebral and basilar arteries compressing the seventh and eighth cranial nerve complexes on the right side ([Figure 1]a). Dolichoectasia involved other vessels such as the anterior cerebral artery and middle cerebral artery. He was treated with botulinum toxin injection and received relief from his symptoms.
|Figure 1: (a). T2 axial magnetic resonance image (patient 1) showing dolichoectasia of the right vertebral artery indenting the seventh and eighth cranial nerve complex and distorting pons. (b). Postcontrast T1 axial image (patient 2) showing dolichoectasia of the right vertebral artery compressing the seventh cranial nerve. (c). Postcontrast computed tomography angiogram (patient 3) showing dolichoectasia of the left vertebral artery|
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The patient revealed that two of his sisters had similar symptoms, and both were called for examination. They were born out of a non-consanguineous marriage. The first sister was 56 years old, with a 10-year history of HFS involving the right side of her face without any other neurological abnormalities. She did not have hypertension or other comorbidities. Magnetic resonance imaging of the brain with magnetic resonance angiogram showed dolichoectasia of the right vertebral and basilar arteries ([Figure 1]b). The left vertebral artery originated from the arch of the aorta, with tortuous arch vessels and fetal origin of the left posterior cerebral artery. The second sister was 66 years old and had HFS on the left side of her face from the age of 58 years. She had symptoms suggestive of trigeminal neuralgia involving the right side of her face. In addition, she was hypertensive, and the rest of her clinical examination was normal. There was no facial weakness or facial sensory loss. Computed tomography (CT) of her brain with CT angiogram showed dolichoectasia of the V4 segment of the vertebral and basilar arteries, causing indentation of the medulla and seventh and eighth cranial nerve complex on the left side ([Figure 1]c). Furthermore, high bifurcation of the basilar artery indenting the anterior segment of the midbrain was noted. The right superior cerebellar artery was abutting the distal cisternal segment of the right fifth cranial nerve. Both sisters were successfully treated with botulinum toxin injections. Fifty units of Botox (Allergan) was used for each sister. The patients deferred angiographic evaluation of other vessels and further investigations, including genetic tests. Our patient and the first and second sisters described had dilated and laterally displaced basilar arteries with maximum diameters of approximately 6.6 mm, 7.5 mm, and 6.9 mm, respectively. The vascular abnormalities of the three siblings are shown in [Figure 1], and Video 1 demonstrates HFS in all the three patients.
[Additional file 1]
| Discussion|| |
HFS is a sporadic disorder that is usually caused by neurovascular conflict in the seventh cranial nerve motor REZ, a transition zone from central myelination to peripheral myelination. The lack of epineurium in the transition zone increases a patient’s susceptibility to injury, demyelination, and ephaptic transmission, leading to HFS. However, vascular compression may not be demonstrable in all cases of HFS by routine imaging techniques.
Familial occurrence of HFS has been scarcely reported in the literature. The first report on familial occurrence of HFS was by Friedman et al. who described HFS in five patients in a family spanning three generations. CT imaging of all patients with HFS was unremarkable. Micheli et al. reported two siblings with HFS without any demonstrable vascular anomaly on CT or magnetic resonance imaging. Subsequent reports by other authors showed vascular abnormalities compressing the facial REZ.,,, The postulated mechanisms for familial clustering of HFS are genetic abnormalities, increasing the vulnerability of REZ to trauma and genetic predisposition to vascular abnormalities., However, no genetic abnormalities have been reported to date., No differences between the phenomenological characteristics of familial vs sporadic HFS have been described. Furthermore, we did not observe such differences in our patients.
Most of the patients with familial HFS that have been described to date had vascular abnormalities compressing the seventh cranial nerve. In addition to dolichoectasia of the vertebrobasilar system, other vascular anomalies have been reported in patients with familial HFS; they include the posterior inferior cerebellar artery originating from the basilar artery, absence of the posterior inferior cerebellar artery, and prominent left vertebral artery.,, In our family, all the three siblings had dolichoectasia of the vertebrobasilar system, leading to compression of the seventh and eight cranial neve complex. To the best of the patients’ knowledge, no family members in the previous or subsequent generations have had or have HFS, trigeminal neuralgia, or other cranial neuropathies. In addition to vertebrobasilar dolichoectasia, there were widespread abnormalities such as dolichoectasia of the anterior cerebral artery and middle cerebral artery. In addition, high bifurcation of the basilar artery and vertebral artery originating from the arch of aorta with tortuous arch vessels was observed, indicating that a genetic predisposition to vascular abnormalities may be the mechanism of HFS in our patients. However, we were unable to perform genetic investigations to prove this as our patients did not provide consent. The familial occurrence of HFS could be due to more than one genetic mechanism. To date, the studies examining selected genes important to vascular growth and proliferation such as methylenetetrahydrofolate reductase, thymidylate synthase enhancer region, endothelial nitric oxide synthase, and vascular endothelial growth factor have not yielded conclusive results; however, further studies are needed to further explore this aspect.,
To the best of our knowledge, ours is the first report on familial occurrence of HFS from the Indian subcontinent.
Khushboo Patel - (1) Concept and design of study, acquisition of data, analysis and interpretation of data (2) Drafting the article
Asish Vijayaraghavan – (1) Concept and design of study, acquisition of data (2) Drafting the article
Syam Krishnan- (1) Concept and design of study, analysis and interpretation of data (2) Revising the article critically for important intellectual content. (3) Final approval of the version to be published.
Divya Kalikavil Puthenveedu: (1) Concept and design of study, acquisition of data, analysis and interpretation of data (2) Revising the article critically for important intellectual content.
Ajith Cherian: (1) Concept and design of study, analysis and interpretation of data (2) Revising the article critically for important intellectual content.
Ethical compliance statement
Our study was reviewed and approved by the local Institutional Ethics Committee. (Ethical Approval Number IEC/1786/DECEMBER/2021). All patients provided written informed consent for publication.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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Comprehensive Care Center for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram - 695 011, Kerala
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