PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.

Progressive myoclonic ataxia, also referred to as Ramsay Hunt syndrome, is characterized by a combination of myoclonus and cerebellar ataxia, infrequently accompanied by tonic-clonic seizures. Its differential diagnosis overlaps with progressive myoclonic epilepsy, a syndrome with myoclonus, tonic-clonic seizures, progressive ataxia and dementia. In patients with progressive myoclonic epilepsy, specific diseases can frequently be recognized, but the diagnostic yield in progressive myoclonic ataxia is much lower. We describe a patient who presented with multifocal myoclonus in his thirties and who later developed cerebellar ataxia and focal dystonia. His father was similarly affected. Genetic studies revealed a mutation in the protein kinase C gamma (PRKCG) gene, known to cause spinocerebellar ataxia type 14 (SCA-14). This case illustrates that both myoclonus and dystonia are part of the clinical spectrum in SCA-14 and that myoclonus can even be the presenting symptom. We suggest that SCA-14 should be considered in the differential diagnosis of progressive myoclonic ataxia.     

Tullio现象与Ramsay Hunt综合征的前庭诱发的肌源性电位

目的应用前庭诱发的肌源性电位(vestibular evoked myogenic potentials,VEMPs),观察Tullio现象与Ramsay Hunt综合征的电位特点,为诊断提供客观依据.方法Tullio现象与Ramsay Hunt综合征各1例,通过已经建立的VEMPs检查方法观察两者的电位引出情况.结果正常人VEMP刺激声在阈上85dB nHL可引出VEMPs.本文Tullio现象患者在刺激强度降至39dB nHL时仍可引出.而健侧在69dB nHL时就已不能引出.Ramsay Hunt综合征在阈上105dBHL右侧不能引出VEMP;而左侧可以引出.结论VEMPs可用来了解前庭下神经的功能状态.由于VEMPs的检查特点,可用于动态观察前庭神经病变后的恢复情况.     

Characteristics of facial nerve palsy during childhood in Japan: frequency of varicella–zoster virus association

BACKGROUND: The aim of this study was to clarify the clinical characteristics of facial nerve palsy and the frequency of varicella-zoster virus association in Japanese children, retrospectively. METHODS: The subjects were 30 facial nerve palsy patients less than 15 years old, treated in the Department of Pediatrics, Kawasaki Medical School Hospital, Okayama, Japan, during the last 10 years. RESULTS: The male/female and right/left ratios were 16/14 and 16/13, respectively. The patients included 21 cases (70%) of Bell's palsy, four cases (13%) due to otitis media, three cases (10%) of Ramsay Hunt syndrome and two cases (7%) due to birth trauma. There were six cases of zoster sine herpete among the Bell's palsy cases. CONCLUSION: Varicella-zoster virus-associated facial palsy was found in nine (36%) of the 25 patients examined. Zoster sine herpete was more frequently encountered in children than adults. Ramsay Hunt syndrome was found in school-age children and zoster sine herpete was often found in preschool children. The period of recovery was fast for facial nerve palsy due to acute otitis media, which occurred within 23 months of age, after myringotomy and administration of antibiotics.     

Assessing sedation in critically ill children by bispectral index, auditory-evoked potentials and clinical scales

Objective  To evaluate the correlation and agreement between the bispectral index (BIS), middle latency auditory-evoked potential index (AEP index), Ramsay scale (RS) and COMFORT scale (CS) for evaluation of the level of sedation in critically ill children. Design  Prospective observational study. Setting  Pediatric critical care unit. Patients  Seventy-seven critically ill children receiving sedation and mechanical ventilation. Measurements and results  Simultaneous recording of BIS, AEP index, RS and CS were performed once a day, for a maximum of 5 days. Two levels of sedation were categorized: light–moderate versus deep–very deep. Correlations between methods were determined using Spearman rank correlation test and the agreement using Cohen’s Kappa test. The correlation and agreement between the four methods was moderate-to-good. Correlation was not found in paralyzed children. There was no correlation between the four methods and the heart rate or blood pressure, or with the type or dose of sedative medication. Receiver-operating characteristic (ROC) analysis revealed best discrimination between light–moderate and deep–very deep sedation at BIS and AEP index values of 63.5 and 33.5 when the level of sedation was classified by the RS, and at BIS and AEP index values of 67 and 37.5, respectively, when the level of sedation was classified by the CS. Conclusion  There is a moderate-to-good correlation and agreement of BIS and AEP index with the clinical scales in critically ill children without neuromuscular blockade. BIS and AEP index could be useful to evaluate the level of sedation in critically ill children with and without neuromuscular blockade.     

Prophylactic quinidine for the prevention of arrhythmias after acute myocardial infarction

A selected group of 103 patients with uncomplicated myocardial infarction of less than 24 hours′ duration were randomly assigned to two different treatments: 45 patients received quinidine sulfate orally in a dose of 0.4 g every 8 hours and 58 patients received sodium lactate placebo. The period of observation was 72 hours. Ventricular tachyarrhythmias, including ventricular tachycardia, and ventricular premature beats that were multifocal or occurred at a frequency greater than 5/ min occurred in 26 of 58 patients (45 percent) receiving placebo and in 7 of 45 patients (16 percent) treated with quinidine. Quinidine effected an even more significant reduction of ventricular tachycardia; this arrhythmia was observed in 12 of 58 patients receiving placebo and in only 1 of 45 quinidine-treated patients (P < 0.01). Continuous 72 hour electromagnetic tape recordings showed no reduction In the frequency of isolated ventricular premature beats in the quinidine-treated group compared with the control group. Bradyarrhythmias including heart block warranted discontinuance of the trial in 6 of 45 quinidinetreated patients and 2 of 58 patients receiving placebo. There was no difference in mortality in the two groups during the 72 hour study period or during the entire period of hospitalization.     

亨特氏综合征的临床观察与护理

目的探讨亨特氏综合征的护理方法。方法对3例亨特氏综合征患者的临床资料进行回顾性分析。结果经过积极治疗和精心护理,患者康复出院。结论药物治疗、做好基础护理及心理护理是亨特氏综合征患者治疗和康复的重要保证。     

Unusual presentation of Ramsay Hunt syndrome in renal transplant patients: case report and literature review

Abstract: Ramsay Hunt syndrome (RHS) is a rare manifestation of varicella zoster virus (VZV) infection that accounts for around 12% of all cases of facial paralysis. Although it is more common in immunosuppressed individuals, it has not been yet reported in kidney transplant recipients. We describe the case of a 41-year-old man with a history of renal transplant for whom the diagnosis and treatment of RHS were delayed owing to an unusual presentation. We also review the literature on VZV infection in renal transplant patients.