Citations

Object Meige syndrome is characterized by blepharospasm, cervical dystonia, and facial oromandibular dystonia. The medical treatment of this condition is largely unsuccessful over time and is a major source of decreased quality of life in those patients suffering from this disease. Recent advances in the application of deep brain stimulation (DBS) surgery techniques for many disorders have prompted several recent reports of DBS for medically refractory cases of Meige syndrome. While the etiology for this disorder is unknown, it is considered by many investigators to be a form of idiopathic torsion dystonia. Pallidal stimulation is widely considered to be effective for dystonia. Methods The authors report the long-term results of bilateral globus pallidus internus (GPi) or subthalamic nucleus (STN) stimulation in 3 patients with Meige syndrome and 1 patient with Parkinson disease and associated craniofacial dystonia treated at their center. Results Initial 12-month and long-term follow-up Burke-Fahn-Marsden scores were substantially improved in all 4 patients compared with preoperative scores. Conclusions Bilateral GPi DBS may be an effective and safe treatment for medically refractory Meige syndrome. The results are comparable with those reported in the literature. Sustained and long-term improvement in symptoms does appear to be reproducible across reports. The authors' patient with Parkinson disease and associated craniofacial dystonia syndrome undergoing bilateral STN DBS noted immediate and sustained improvement in his symptoms. Further study is required, but these results, along with the other reports, suggest that bilateral GPi DBS is an effective treatment for medically refractory Meige syndrome.

Purpose Malignancies found in unexpected locations or with poorly differentiated morphologies can pose a significant challenge for tissue of origin determination. Current histologic and imaging techniques fail to yield definitive identification of the tissue of origin in a significant number of cases. The aim of this study was to validate a predefined 1,550-gene expression profile for this purpose. Methods Four institutions processed 547 frozen specimens representing 15 tissues of origin using oligonucleotide microarrays. Half of the specimens were metastatic tumors, with the remainder being poorly differentiated and undifferentiated primary cancers chosen to resemble those that present as a clinical challenge. Results In this blinded multicenter validation study the 1,550-gene expression profile was highly informative in tissue determination. The study found overall sensitivity (positive percent agreement with reference diagnosis) of 87.8% (95% CI, 84.7% to 90.4%) and overall specificity (negative percent agreement with reference diagnosis) of 99.4% (95% CI, 98.3% to 99.9%). Performance within the subgroup of metastatic tumors (n = 258) was found to be slightly lower than that of the poorly differentiated and undifferentiated primary tumor subgroup, 84.5% and 90.7%, respectively (P = .04). Differences between individual laboratories were not statistically significant. Conclusion This study represents the first adequately sized, multicenter validation of a gene-expression profile for tissue of origin determination restricted to poorly differentiated and undifferentiated primary cancers and metastatic tumors. These results indicate that this profile should be a valuable addition or alternative to currently available diagnostic methods for the evaluation of uncertain primary cancers.

Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) is a severe primary headache disorder that is often refractory to medical therapy. Although the pathogenesis of this and other trigeminal autonomic cephalalgias is not completely understood, ipsilateral activation of the posterior and inferior hypothalamus has been identified on functional imaging studies during attacks. The authors report on a case of SUNCT syndrome successfully treated with hypothalamic deep brain stimulation and discuss the current literature.

✓The aim of this study is to evaluate the presentation of unusual dementias in 4 patients and correlate these presentations with the histopathological findings after brain biopsy sampling to define a diagnostic entity. The authors detail the cases of 4 patients (2 women, 46 and 56 years of age; and 2 men, 67 and 74 years of age) who presented with acute and subsequently subacute encephalopathies. Their bizarre presenting symptom complexes and the results of neurological examinations, radiographic studies, electroencephalography (EEG) recordings, and serological marker tests are reviewed. The diagnostic surgical procedures and successful treatments in these patients are discussed. All 4 patients underwent craniotomy and excisional brain biopsy sampling as part of a comprehensive evaluation. Histopathological confirmation of nonvasculitic autoimmune inflammatory meningoencephalitis (NAIM) by a neuropathologist was present in all 4 patients. All patients were successfully treated with a course of corticosteroid medication. Nonvasculitic autoimmune inflammatory meningoencephalitis is a potentially treatable form of dementia whose salient features include a younger average age at onset, rapid progression with significant cognitive and behavioral features, absence of family history, abnormal EEG findings, and elevated levels of inflammatory markers. Although it is an invasive procedure, brain biopsy sampling is safe and can offer histological confirmation of this condition. This procedure is important because NAIM can be treated successfully if it is distinguished from the nontreatable dementias that mimic it.