Reducing nasal morbidity after skull base reconstruction with the nasoseptal flap: Free middle turbinate mucosal grafts

The nasoseptal flap provides hearty, vascularized tissue for reconstruction of Expanded Endonasal Approaches (EEA); however, it produces donor site morbidity due to exposed cartilage. Mucosalization of the septum requires 12 weeks, multiple debridements, and frequent saline rinses. This study addresses the reduction of nasal morbidity by grafting middle turbinate mucosa onto the exposed septum

Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations. Methods Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required. Results Only two changes were made to clinical diagnostic criteria reported in 2013: “multiple cortical tubers and/or radial migration lines” replaced the more general term “cortical dysplasias,” and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSC-associated neuropsychiatric disorders, and new medication approvals. Conclusions Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. EXPOSURES: Genetic test results. MAIN OUTCOMES AND MEASURES: Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. RESULTS: Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%). CONCLUSIONS AND RELEVANCE: Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes

Angiocentric glioma-induced seizures in a 2-year-old child

A 2-year-old child presented with medically refractory seizures and was found to have a right frontoparietal parasagittal angiocentric glioma. Depth electrodes were used to document ictal onset from within the tumor rather than from the surrounding tissues. Ictal activity then spread to a wide area on the cortical surface, including the region around the tumor and hand motor cortex. Lesionectomy permitted sparing of adjacent areas of eloquent cortex, and the child is now seizure-free on monotherapy

Passive language mapping with magnetoencephalography in pediatric patients with epilepsy

OBJECT: Functional mapping is important for determining surgical candidacy and also in epilepsy surgery planning. However, in young children and uncooperative patients, language mapping has been particularly challenging despite the advances in performing noninvasive functional studies. In this study the authors review a series of children with epilepsy who underwent language mapping with magnetoencephalography (MEG) while sedated or sleeping, to determine receptive language localization for presurgical evaluation. METHODS: The authors undertook a retrospective review of patients who underwent MEG between December 2007 and July 2009, and identified 15 individuals who underwent passive language testing as part of their presurgical evaluation because they were unable to participate in traditional language testing, such as Wada or functional MRI. Factors necessitating passive language testing included age and neurocognitive development. RESULTS: Three of the 15 patients were deemed candidates for epilepsy surgery based on the results from standard preoperative testing, including video electroencephalography, MRI, and passive receptive language testing using MEG technology. The MEG studies were used successfully to localize language in all 3 patients, creating opportunities for seizure freedom through surgery that would not otherwise have been available. All 3 patients then underwent resective epilepsy surgery without experiencing postoperative language deficits. CONCLUSIONS: This case series is the first to look at language mapping during sleep (passive language mapping) in which MEG was used and is the first to evaluate passive language testing in a patient population with intracranial pathological entities. This case series demonstrates that MEG can provide an alternative method for receptive language localization in patients with barriers to more traditional language testing, and in these 3 cases surgery was performed safely based on the results