Project description:Background Hemifacial spasm (HFS) is a movement disorder caused by mechanical compression of the facial nerve after it has left the brainstem and is characterized by brief or sustained twitching of the muscles innervated by that nerve. Often we observe spasm in an awakening situation. Actually contractions persist during sleep. To our knowledge, there were no reports on how HFS manifests under disturbance of consciousness. Here, we report a case of primary HFS in which the patient's symptoms persisted in a coma.Case presentationA 74-year-old female with right-sided primary HFS for 20 years and had received botulinum toxin injections in our hospital. Unfortunately she was carried to emergency department after traumatic right pneumothorax by accident. During the emergency treatment, she lost consciousness due to simultaneous cardiac arrest and respiratory arrest. She was then admitted to the emergency intensive care unit for further treatment. During her hospitalization, she was in a coma with stable vital signs and persisting symptoms of HFS. Thus, a multidisciplinary consultation was requested to identify whether it was focal cortical seizures involving the right-side facial muscles. Physical examination revealed brief involuntary clonic or tonic contractions accompanied with the 'Babinski-2 sign'. A combination of relevant data, including her past history, clinical presentation and a negative computed tomography scan of the head, led to a diagnosis of right-sided HFS. As the symptoms of HFS are not life-threatening, the use of anticonvulsants is unnecessary.ConclusionsFor the layperson, it is crucial to seek a multidisciplinary consultation to obtain a correct diagnosis.
Project description:PurposeTo evaluate the effect of hemifacial spasm (HFS) on intraocular pressure (IOP) measurement.MethodsTwenty-four consecutive patients with HFS and 25 age- and gender-matched randomly selected eyes of healthy volunteers underwent corneal pachymetry and IOP measurements using Goldmann applanation tonometer (GAT) and noncontact tonometer (NCT). IOP measurements were performed before (during HFS) and 2 weeks after Botox injections in HFS patients and in healthy volunteers without Botox injections.ResultsThere was no statistical difference between involved eye side and uninvolved eye side of HFS patients in measured central corneal thickness. Similarly, no difference was found between involved eye side of HFS patients and controls. There were no statistically significant differences comparing IOP values before treatment and levels measured at 2 weeks of Botox injections, either with GAT (p = 0.33, 0.11) or NCT (p = 0.80, 0.43) devices in the involved eyes and uninvolved eyes of patients with HFS, respectively. There were also no significant differences in these parameters (GAT (p = 0.63) and NCT (p = 0.54)) in controls.ConclusionsContractions in facial muscles may not lead to significant increase in IOP in HFS patients. This result may help clinical decision making in the treatment of glaucoma patients with HFS. This trial is registered with NCT03390803.
Project description:BackgroundCoexisting hemifacial spasm (HFS) and trigeminal neuralgia (TN) without any mass lesion in the posterior fossa is a rare condition. Hence, the surgical strategy of coexisting HFS and TN has rarely been discussed.Case descriptionWe present a rare case of coexisting HFS and TN without any mass lesion in posterior fossa having microvascular confliction of trigeminal nerve with superior cerebellar artery (SCA) and facial nerve with anterior inferior cerebellar artery (AICA). Single surgery was performed for both trigeminal nerve and facial nerve. Mobilization of vessels and placement of Teflon between the nerve and vessel relieved the symptoms immediately after the operation. We have reviewed the literature for cases with coexistent HFS and TN. The treatment strategy for such cases has been discussed. The surgical treatment has been demonstrated with a video.ConclusionA single surgery is a safe and effective option to treat coexistent HFS and TN due to microvascular confliction.
Project description:PurposeA 59-year-old man with retinitis pigmentosa, who received an Argus II retinal prosthesis in the left eye 3 years prior, presented with left-sided involuntary facial contractions that occurred only after turning on the Argus II device.MethodsA case report.ResultsGiven that this patient's reported and visualized lower eyelid twitching corresponds to the location of the external region of the implanted coil, we hypothesize that heat or wirelessly transmitted electrical signals from the external coil to the implanted coil may induce spasm of the facial nerve and thus play a role in hemifacial spasm onset.ConclusionsTo our knowledge, this is the first report of hemifacial spasm associated with Argus II use.
Project description:Hemifacial spasm (HFS), which is a rare clinical entity, occurs most commonly due to vascular structures at facial nerve root entry zone. Tumor as a cause of HFS is rarely described in the literature. Here, we describe an unusual case of HFS which is caused by contralateral tentorial meningioma. The pathology, etiology, and surgical treatment have been discussed.
Project description:Hemifacial spasm is typically caused by vascular compression of the proximal intracranial facial nerve. Although the prevalence of neurovascular compression has been investigated in a cohort of patients with classical trigeminal neuralgia, the prevalence and severity of neurovascular compression has not been well characterized in patients with hemifacial spasm. We aimed to investigate whether presence and severity of neurovascular compression are correlated to the symptomatic side in patients with hemifacial spasm. All patients in our study were evaluated by a physician who specializes in the management of cranial nerve disorders. Once hemifacial spasm was diagnosed on physical exam, the patient underwent a dedicated cranial nerve protocol magnetic resonance imaging study on a 3 T scanner. Exams were retrospectively reviewed by a neuroradiologist blinded to the symptomatic side. The presence, severity, vessel type, and location of neurovascular compression along the facial nerve was recorded. Neurovascular compression was graded as contact alone (vessel touching the facial nerve) versus deformity (indentation or deviation of the nerve by the culprit vessel). A total of 330 patients with hemifacial spasm were included. The majority (232) were female while the minority (98) were male. The average age was 55.7 years. Neurovascular compression (arterial) was identified on both the symptomatic (97.88%) and asymptomatic sides (38.79%) frequently. Neurovascular compression from an artery along the susceptible/proximal portion of the nerve was much more common on the symptomatic side (96.36%) than on the asymptomatic side (12.73%), odds ratio = 93.00, P < 0.0001. When we assessed severity of arterial compression, the more severe form of neurovascular compression, deformity, was noted on the symptomatic side (70.3%) much more frequently than on the asymptomatic side (1.82%) (odds ratio = 114.00 P < 0.0001). We conclude that neurovascular compression that results in deformity of the susceptible portion of the facial nerve is highly associated with the symptomatic side in hemifacial spasm.
Project description:The objective of this case study was to describe the clinical and electroencephalography (EEG)/functional magnetic resonance imaging (fMRI) data of a case of isolated hemifacial spasm due to epilepsia partialis continua in a 59-year-old man with abnormal hemifacial movements that disappeared during voluntary tasks, were absent during sleep, and responded to carbamazepine. His neurological examination was normal; EEG revealed right inferior frontal epileptiform discharges. EEG/fMRI demonstrated increased blood oxygenation level-dependent contrast in the right inferior and middle frontal gyri corresponding to the contralateral motor and premotor cortex responsible for facial movements (BA 44, 45, 45, 9), with widespread BOLD signal deactivations suggestive of epileptic network involvement despite a very focal epileptogenic process. We hypothesize that the response of some cases of hemifacial spasm to carbamazepine, a first-line treatment in the pre-botulinum toxin era, may have been due to its antiepileptic effects, rather than to modulation of facial nerve hyperexcitability.
Project description:PurposeThe specific neurovascular compression (NVC) event responsible for the symptomatic manifestation of hemifacial spasm (HFS) remains difficult to assess accurately using magnetic resonance imaging (MRI). We aim to evaluate the MRI characteristics of HFS.MethodWe retrospectively included patients with HFS and divided them into a test group (n = 186) and a validation group (n = 28). The presence, severity, and offending vessel type of NVC in each portion, and the orientation of the offending vessel around the facial nerve, were recorded. Conditional logistic regression analyses were performed to evaluate correlations using test group. The validation group was used to verify whether our findings improved diagnostic performance.ResultsDeformity in the proximal cisternal segment was significantly correlated with HFS occurrence (odds ratio [OR]: 256.58, p = .002), whereas contact was not (p = .233). Both contact and deformity in the root detachment point (OR: 19.98 and 37.22, p < .001 and p = .013, respectively) or attached segment (OR: 4.99 and 252.52, p = .001 and p < .001, respectively) were significantly correlated with HFS occurrence. Our findings improved specificity, positive predictive value, and accuracy of diagnosis than conventional diagnostic methods. The vertebral artery predominantly compress the facial nerve in the inferior-anterior position, the anterior inferior cerebellar artery predominantly in the inferior position, the posterior inferior cerebellar artery predominantly in the inferior position, vein predominantly in the posterior-superior position.ConclusionsThis study further demonstrates that within the susceptible portion of facial nerve, different portions of the nerve respond differently to NVC. Each offending vessel has its own preferred conflict orientation. Our study offers reference for neurosurgeons in diagnosis and treatment.
Project description:Purpose:Spasm of the near reflex (SNR) is a triad of miosis, excess accommodation and excess convergence. Primary SNR is most often functional in origin We aim to highlight the clinical features which distinguish primary convergence from other conditions with a similar presentation but more sinister underlying aetiology, for example bilateral abducens nerve palsy. Observations:There is a paucity of published data on SNR, in particular diagnostic criteria and treatment. We report a case of SNR of functional origin in an otherwise healthy young female and discuss the clinical features that differentiate this condition from similar conditions with underlying neurological origin. Conclusions and importance:SNR is predominantly a clinical diagnosis, and often leads to patients undergoing unnecessary investigations and sometimes treatment. Recognising the salient features that differentiate it could potentially avoid this.
Project description:BackgroundProgressive hemifacial atrophy (PHA) is a rare and progressive condition of unknown etiology that is characterized by chronic progressive atrophy of the skin, subcutaneous tissue, muscle, and bone on 1 side of the face. However, its precise pathogenesis remains poorly understood.Case presentationHere, we report a case of PHA, which manifested as left-sided facial atrophy. Whole-exome sequencing of peripheral blood samples from the patient and his parents, together with bioinformatics analyses, led to the identification of mutations in ARHGAP4 and CFAP47.ConclusionThis report is the first to describe ARHGAP4 and CFAP47 mutations in a patient with PHA. These mutations may be related to the occurrence of hemifacial atrophy, although further studies are needed to clarify the role of ARHGAP4 and CFAP47 in the context of PHA pathogenesis.