A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.

BACKGROUND: DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. CASE PRESENTATION: We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far. CONCLUSIONS: DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.

Single parameter wrist ultrasonography as a first-line screening examination in suspected carpal tunnel syndrome patients.

UNLABELLED: Carpal tunnel syndrome (CTS) is the most common form of peripheral nerve entrapment. Electromyography with selected nerve conduction studies (NCS) is an accepted diagnostic tool in CTS patients. Ultrasonography presents a widely available and low cost investigation method and its position in CTS diagnostics needs further clarification with concrete recommendations for clinical practice. A prospective study of 37 patients with 74 wrists (59 wrists with suspected CTS) was done. Normative data were obtained from a control group of 25 healthy persons (50 wrists) age and sex matched. All persons underwent ultrasonographic examination (median nerve cross-sectional area at carpal tunnel entrance measurement--CSA) and median NCS studies (distal motor and sensory latency measurement--DML and DSL). RESULTS: CSA has a sensitivity of 93% (CI 84-97%) and specificity of 96% (CI 87-99%) in our patients group. Conventional first-line NCS studies results in our patients groupare as follows: DML sensitivity 58% (CI 45-69%) and specificity 100% (CI 93-100%); DSL sensitivity 88% (CI 78-94%) and specificity 94% (CI 84-98%). CONCLUSION: We recommend the use of single-parameter wrist ultrasonography as a first-line screening laboratory method in suspected CTS diagnosis (Ref. 14). Full Text (Free, PDF) www.bmj.sk.

Early and delayed auditory oddball ERPs and brain MRI in patients with MTBI.

INTRODUCTION: Mild traumatic brain injury (MTBI) is a common neurotraumatologic diagnosis. It is possible to confirm objective cognitive impairment in MTBI patients not only by complex neuropsychological testing but also by event-related potentials (ERPs). The most common ERPs used in clinical practice are based on an oddball paradigm. Magnetic resonance imaging (MRI) is not routinely used in MTBI despite its proven greater sensitivity and specificity in comparison with computer tomography (CT). METHODS: This study investigated 31 MTBI patients and 31 sex and age-matched healthy controls. Both groups underwent clinical neurological examinations. Auditory oddball ERPs and brain MRI were done early after the injury and 3-7 months later. RESULTS: There were no significant sex, age and education differences between the analysed groups. No significant differences were found in N2 and P3 wave parameters in both ERP examinations. CONCLUSION: Standard auditory oddball ERPs are not sensitive enough to detect and/or quantify subtle objective neuropsychological changes in selected MTBI patients, especially those with traumatic MRI brain lesions. More complex auditory or other oddball paradigms have to be tested in the future.