No abstract

Focal cortical dysplasia (FCD) is a congenital developmental malformation and is one of the leading causes of drug-resistant focal epilepsy (DRFE). Although focal epilepsies traditionally have been regarded as acquired disorders, increasing evidence suggests a substantial genetic contribution to the pathogenesis of focal structural epilepsies, including FCDs. Mutations in the Dishevelled, Egl-10 and domain-containing protein 5 (DEPDC5) have recently emerged as a causative gene mutation in familial focal epilepsies associated with FCD type 2a, including Bottom of sulcus dysplasia (BOSD). We present a case of a 20-year-old man with DRFE, positive for DEPDC5 c.1555C>T (p.GIn519*) heterozygous pathogenic variant. Initial 3T brain MRI was unrevealing, but subsequent 7T MRI including 7T edge-enhancing gradient echo (EDGE), revealed a left superior frontal sulcus BOSD concordant with the electroclinical data. The patient underwent treatment with MR-guided laser interstitial thermal ablation of the left frontal BOSD without intracranial EEG monitoring ("skipped candidate”), resulting in a seizure-free outcome of nine months since the last follow-up. Our case highlights the real-world application of summative information obtained through advancements in epilepsy–genetic testing, minimally invasive surgeries, and ultra-high field MRI, allowing us to provide a safe and effective treatment for a patient with a genetic DRFE.

A 5-year-old female was seen in the pediatric cardiology clinic following her adoption from China 1 month prior. A cardiovascular assessment was requested due to her pertinent cardiac medical history of ventricular septal defect (VSD), patent ductus arteriosus (PDA), and right aortic arch. She underwent surgical closure of the VSD and ligation of the PDA at age of 2 years in China. Her postoperative echocardiogram in China showed excellent results with no residual lesions. In addition to establishing follow-up cardiology clearance was requested for a rectal biopsy to rule out Hirschsprung's because of chronic constipation.At the cardiology visit she was described as an active child who is able to keep up well with peers. She had a history of constipation and recurrent abdominal pain. A review of systems was negative for fevers, diaphoresis, emesis, shortness of breath, exercise intolerance, dizziness, syncope, or claudication. Her development was normal and her growth tracked the third percentile for height and weight and was felt to be due to social circumstances.On examination, the patient was found to have a heart rate of 90 beats/min, right upper extremity blood pressure of 130/84 mm Hg, and a right lower extremity blood pressure of 105/57 mm Hg with normal oxygen saturation. The upper extremity pulses were 2+ while both femoral artery pulses were absent, with acyanotic, warm, and well-perfused lower extremities. Auscultation yielded normal S1 and S2 heart sounds with no murmurs, and clear lung fields. Abdominal exam showed mild distension but otherwise was unremarkable. No bruit was appreciated. An electrocardiogram demonstrated normal sinus rhythm. Because of the weak femoral pulses and the significant blood pressure discordance between upper and lower extremities, an echocardiogram was obtained which demonstrated a right aortic arch without thoracic coarctation, a moderately dilated aortic root and ascending aorta, and a blunted abdominal aorta spectral Doppler profile suggestive of abdominal aortic obstruction; there was no residual shunting from the previously repaired VSD or the PDA. Because of these concerning findings, a magnetic resonance imaging and angiography (MRI/MRA) study of the chest and abdomen was obtained. The MRI/MRA demonstrated severe asymmetric luminal narrowing in the upper abdominal aorta just superior to the celiac and renal arteries and a moderately dilated ascending aorta. It also showed circumferential aortic wall thickening with increase contrast enhancement suggestive of aortic wall inflammation (Figure 1). These findings were most consistent with aortitis and the patient was admitted to the inpatient cardiology service. Hospital CourseRheumatology and infectious disease services were consulted. An extensive workup was initiated and yielded low inflammatory markers with an erythrocyte sedimentation rate of 4 mm/h and C-reactive protein of <0.29 mg/dL. Infectious work up, including tuberculosis and syphilis, was negative. Biomarkers suggestive of vasculitis were obtained and foun...

Objective: Improve data-driven research to inform clinical decision-making with pediatric epilepsy surgery patients by expanding the Pediatric Epilepsy Research Consortium Epilepsy Surgery (PERC-Surgery) Workgroup to include neuropsychological data. This article reports on the process and initial success of this effort and characterizes the cognitive functioning of the largest multi-site pediatric epilepsy surgery cohort in the United States.Methods: Pediatric neuropsychologists from 18 institutions completed surveys regarding neuropsychological practice and the impact of involvement in the collaborative. Neuropsychological data were entered through an online database.Descriptive analyses examined the survey responses and cognitive functioning of the cohort. Statistical analyses examined which patients were evaluated and if composite scores differed by domain, demographics, measures used, or epilepsy characteristics.Results: Positive impact of participation was evident by attendance, survey responses, and the neuropsychological data entry of 534 presurgical epilepsy patients. This cohort, ages 6 months to 21 years, were majority White and non-Hispanic, and more likely to have private insurance. Mean intelligence quotient (IQ) scores were below to low average, with weaknesses in working memory and processing speed.Full-scale IQ (FSIQ) was lowest for patients with younger age at seizure onset, daily seizures, and magnetic resonance imaging (MRI) abnormalities.