Search

ObjectiveTo evaluate the long-term outcomes of patients with epilepsy and malformations of cortical development (MCD).MethodsWe conducted a historical cohort study of patients with epilepsy and MCD due to impaired neuronal migration and postmigration organization with a follow-up period of ≥5 years. For each patient, MCD was classified after accurate neuroimaging reappraisal by an expert neuroradiologist. The primary outcome was remission, defined as a period of seizure freedom ≥5 years at any time from epilepsy onset. We used Kaplan-Meier estimates for survival analysis and univariate and multivariate Cox regression analyses to evaluate baseline variables as possible factors associated with remission.ResultsThe cohort included 71 patients (M/F 31/40) with a 17-year median follow-up (1,506 person-years). About half (49.3%) had heterotopia, 35.2% polymicrogyria, 7% lissencephaly, and 8.5% the combination of 2 MCD. The mean age at seizure onset was 12.4 ± 7.2 years. Intellectual disability and neurologic deficits were observed in 30.4% and 40.9%, respectively. More than 60% of patients had refractory epilepsy. In 3 patients who underwent epilepsy surgery, MCD diagnosis was confirmed by histology. At the last visit, 44% of patients had been seizure-free during the previous year, but none of them had stopped antiseizure medication. Thirty patients achieved remission (42.2%) at some point in their disease history, whereas 41 individuals (57.8%) had never been in remission for ≥5 years. The cumulative remission rate was 38% by 20 years from inclusion. In the Cox model, unilateral distribution of MCD (hazard ratio [HR] 2.68, 95% CI 1.04–6.92) and a low seizure frequency at onset (HR 5.01, 95% CI 1.12–22.5) were significantly associated with remission.DiscussionPatients with epilepsy and MCD showed a remission rate of 38% by 20 years from onset. Unilateral distribution of the MCD is associated with a 3-fold probability of achieving remission. About 40% of patients showed a drug-sensitive condition with risk of relapse during their epilepsy course.Classification of EvidenceThis study provides Class II evidence that in patients with epilepsy and MCD, unilateral MCD and low seizure frequency at onset are associated with achieving epilepsy remission.

Background and ObjectivesFocal cortical dysplasia (FCD) has been associated with poorer postsurgical seizure outcomes compared to other pathologies. FCD surgical series have been assembled on the basis of a histologic diagnosis, including patients with abnormal and normal preoperative MRI. However, in clinical workflow, patient selection for surgery is based on preoperative findings, including MRI. We performed a systematic review and meta-analysis of the literature to determine the rate and predictors of favorable seizure outcome after surgery for MRI-detected FCD.MethodsWe devised our study protocol in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and registered the protocol with PROSPERO. We searched MEDLINE, EMBASE, and Web of Science for studies of patients followed up for ≥12 months after resective surgery for drug-resistant epilepsy with MRI-detected FCD. Random-effects meta-analysis was used to calculate the proportion of patients attaining a favorable outcome, defined as Engel class I, International League Against Epilepsy class 1 to 2, or seizure-free status. Meta-regression was performed to investigate sources of heterogeneity.ResultsOur search identified 3,745 references. Of these, 35 studies (total of 1,353 patients) were included. Most studies (89%) followed up patients for ≥24 months after surgery. The overall postsurgical favorable outcome rate was 70% (95% confidence interval [CI] 64–75). There was high interstudy heterogeneity. Favorable outcome was associated with complete resection of the FCD lesion (risk ratio [RR] 2.42 [95% confidence interval (CI) 1.55–3.76], p < 0.001) and location of the FCD lesion in the temporal lobe (RR 1.38 [95% CI 1.07–1.79], p = 0.013) but not lesion extent, intracranial EEG use, or FCD histologic type. The number of FCD histologic types included in the same study accounted for 7.6% of the observed heterogeneity.DiscussionSeventy percent of patients with drug-resistant epilepsy and MRI features of FCD attain a favorable seizure outcome after resective surgery. Our findings can be incorporated into routine preoperative counseling and reinforce the importance of completely resecting the MRI-detected FCD when safe and feasible.

ObjectiveTo determine the genetic basis of bottom-of-sulcus dysplasia (BOSD), which is a highly focal and epileptogenic cortical malformation in which the imaging, electrophysiologic, and pathologic abnormalities are maximal at the bottom of sulcus, tapering to a normal gyral crown.MethodsTargeted panel deep sequencing (>500×) was performed on paired blood and brain-derived genomic DNA from 20 operated patients with drug-resistant focal epilepsy and BOSD. Histopathology was assessed using immunohistochemistry.ResultsBrain-specific pathogenic somatic variants were found in 6 patients and heterozygous pathogenic germline variants were found in 2. Somatic variants were identified in MTOR and germline variants were identified in DEPDC5 and NPRL3. Two patients with somatic MTOR variants showed a mutation gradient, with higher mutation load at the bottom of sulcus compared to the gyral crown. Immunohistochemistry revealed an abundance of dysmorphic neurons and balloon cells in the bottom of sulcus but not in the gyral crown or adjacent gyri.ConclusionsBOSD is associated with mTOR pathway dysregulation and shares common genetic etiologies and pathogenic mechanisms with other forms of focal and hemispheric cortical dysplasia, suggesting these disorders are on a genetic continuum.

Background and ObjectivesWe aim to provide detailed imaging-electroclinicopathologic characterization of the black line sign, a novel MRI marker for focal cortical dysplasia (FCD) IIB.Methods7T T2*-weighted gradient-echo (T2*w-GRE) images were retrospectively reviewed in a consecutive cohort of patients with medically intractable epilepsy with pathology-proven FCD II, for the occurrence of the black line sign. We examined the overlap between the black line region and the seizure-onset zone (SOZ) defined by intracranial EEG (ICEEG) and additionally assessed whether complete inclusion of the black line region in the surgical resection was associated with postoperative seizure freedom. The histopathologic specimen was aligned with the MRI to investigate the pathologic underpinning of the black line sign. Region-of-interest–based quantitative MRI (qMRI) analysis on the 7T T1 map was performed in the black line region, entire lesional gray matter (GM), and contralateral/ipsilateral normal gray and white matter (WM).ResultsWe included 20 patients with FCD II (14 IIB and 6 IIA). The black line sign was identified in 12/14 (85.7%) of FCD IIB and 0/6 of FCD IIA on 7T T2*w-GRE. The black line region was highly concordant with the ICEEG-defined SOZ (5/7 complete and 2/7 partial overlap). Seizure freedom was seen in 8/8 patients whose black line region was completely included in the surgical resection; in the 2 patients whose resection did not completely include the black line region, both had recurring seizures. Inclusion of the black line region in the surgical resection was significantly associated with seizure freedom (p= 0.02). QMRI analyses showed that the T1 mean value of the black line region was significantly different from the WM (p< 0.001), but similar to the GM. Well-matched histopathologic slices in one case revealed accumulated dysmorphic neurons and balloon cells in the black line region.DiscussionThe black line sign may serve as a noninvasive marker for FCD IIB. Both MRI-pathology and qMRI analyses suggest that the black line region was an abnormal GM component within the FCD. Being highly concordant with ICEEG-defined SOZ and significantly associated with seizure freedom when included in resection, the black line sign may contribute to the planning of ICEEG/surgery of patients with medically intractable epilepsy with FCD IIB.Classification of EvidenceThis study provides Class II evidence that in individuals with intractable focal epilepsy undergoing resection who have a 7T MRI with adequate image quality, the presence of the black line sign may suggest FCD IIB, be concordant with SOZ from ICEEG, and be associated with more seizure freedom if fully included in resection.

Background and ObjectivesFocal cortical dysplasia type 2 (FCD2) in the central region can cause drug-resistant epilepsy for which surgery remains challenging because of subsequent functional deficits. Advances in imaging and surgical techniques have progressively improved outcome. We aimed to assess the benefits on epilepsy and the functional risks after FCD2 resections in these highly eloquent areas.MethodsWe retrospectively studied all consecutive patients with histologically confirmed FCD2 located in the central region operated on between 2000 and 2019 at a single center. We analyzed electroclinical and imaging features (including fMRI), seizure outcome, and early and late postoperative neurologic status correlating to anatomo-functional areas (primary motor cortex [PMC], paracentral lobule [PCL], supplementary motor area [SMA], precentral gyrus [PrCG], postcentral gyrus [PoCG], central operculum [COp]).ResultsSixty patients (35 female, age 7–65 years) were included in the study. Epilepsy was characterized by early onset, high seizure frequency with clusters (30–90/d), drop attacks, and status epilepticus. Ictal semiology included sensory-motor auras, motor and postural manifestations, and postictal motor deficits. EEG and stereo-EEG patterns were like those typically recorded in FCD2. MRI was positive in 63% and 18F-fluorodeoxyglucose-PET was positive in 86% of the patients. fMRI demonstrated activations close to the FCD2 (59%) or minor reorganization (41%) but none within the lesion. Seizure-free outcome (2- to 20-year follow-up) was obtained in 53 patients (88%), including 37 achieving Engel class IA (62%), correlating with complete FCD2 removal. Early transitory postoperative deficits occurred in 52 patients (87%), which were severe in 19, mostly after PMC, PCL, and SMA resections, while PrCG, PoCG, and COp resections were associated with minor/moderate deficits. Total recovery was observed in 21 of 52 patients (40%), while a permanent deficit (>2 years) persisted in 31 (minor 19, moderate 9, major 3). The best outcome (seizure freedom without deficit [48%] or with minor deficit (28%]) was significantly more frequent in children (p = 0.025). Antiseizure medications were discontinued in 28 patients (47%). Quality of life correlated with seizure-free outcome and absence of postoperative deficit; 43 patients (72%) reported a schooling or socio-professional improvement.DiscussionExcellent seizure outcome and low rates of major permanent disability can be achieved after central FCD2 resections despite functional risks.Classification of EvidenceDue to its retrospective nature, this study provides Class IV evidence that good seizure outcomes with minor additional deficits can be achieved after epilepsy surgery in the central region.

A 10-month-old boy, born of nonconsanguineous parents, without any perinatal insult, presented with tonic spasms from the 13th day of life. He started having tonic seizures from 4 months of age, with global developmental delay. On examination, there were no neurocutaneous markers, facial dysmorphism, or focal neurologic deficits. EEG (figure) showed generalized and multifocal epileptiform discharges along with burst-suppression pattern. MRI of brain revealed left perisylvian polymicrogyria (figure).

A 38-year-old woman with localized left occipital posterior quadrantic dysplasia complained of seizures described as “flashing lights” and confusion with rare convulsions. These were often induced by changes in lighting. EEG revealed left occipital spike discharges precipitated by eye closure (figure). Fixation-off sensitivity (FOS) is an uncommon phenomenon characterized by epileptiform discharges induced by elimination of central vision or fixation. FOS is most often associated with lesional epilepsy in adults, including focal cortical dysplasia, occipital calcifications in celiac disease, and parietal-occipital stroke.1 The proposed mechanism includes cortical hyperexcitability involving magnocellular and parvocellular pathways, alpha-rhythm generators, or defective glutaminergic and GABAergic pathways.2

To analyze the clinical presentation and outcomes of surgically treated focal cortical dysplasia (FCD) in children.We reviewed 75 cases of confirmed FCD by pathology after resective surgery. We used the pathologic classification proposed by the International League Against Epilepsy and included clinical profile and seizure and neurodevelopmental outcomes in analyses.There were 11 cases of FCD type I, 34 of type IIa, 19 of type IIb, and 11 of type III. Fifty-one cases (68.0%) presented clinically as focal epilepsy (FE) and 24 (32.0%) as epileptic encephalopathy (EE), including 16 with Lennox-Gastaut syndrome and 8 with West syndrome. We observed EE in 7 cases (63.6%) in FCD type I, 14 (41.2%) in type IIa, 2 (10.5%) in type IIb, and 1 (9.1%) in type III. We found the following more frequently in EE: seizure onset occurring at younger than 2 years (EE: 20 [83.3%], FE: 19 [37.3%]; p0.001), presence of intellectual disability before surgery (EE: 22 [91.7%], FE: 29 [56.9%]; p = 0.003), and multilobar resections (EE: 19 [79.2%], FE: 15 [29.4%]; p0.001). Forty-eight cases (64.0%) were seizure-free; 66.7% (34/51) in FE, 58.3% (14/24) in EE. Neurodevelopmental level showed more improvement (11/48 vs 0/27, p = 0.011) and less deterioration (2/48 vs 9/27, p = 0.001) in the seizure-free group compared to the non-seizure-free group.FCD can cause FE and EE in pediatric age, and resective surgery should be considered as a treatment option for both types of epilepsy.

Background: Epilepsia partialis continua (EPC) is a life-threatening condition often caused by focal cortical dysplasia (FCD). Resection of the motor cortex is contemplated in the hope that the trade-off between a severe motor deficit and complete seizure control justifies the procedure. Methods: Report of 3 patients with EPC due to histologically confirmed FCD, who underwent resection of the motor cortex under acute electrocorticography. Results: All had re-emergence of medically intractable EPC in the other side of the body after rolandic resection. Two patients died and the third continues with refractory attacks. Conclusion: In some instances, EPC due to FCD may shift sides and re-emerge in the contralateral, previously asymptomatic, hemibody. A mechanism of disinhibition by surgery of a suppressed contralateral and homologous epileptogenic zone is speculated.

Objective: To detect automatically focal cortical dysplasia (FCD) type II in patients with extratemporal epilepsy initially diagnosed as MRI-negative on routine inspection of 1.5 and 3.0T scans. Methods: We implemented an automated classifier relying on surface-based features of FCD morphology and intensity, taking advantage of their covariance. The method was tested on 19 patients (15 with histologically confirmed FCD) scanned at 3.0T, and cross-validated using a leave-one-out strategy. We assessed specificity in 24 healthy controls and 11 disease controls with temporal lobe epilepsy. Cross-dataset classification performance was evaluated in 20 healthy controls and 14 patients with histologically verified FCD examined at 1.5T. Results: Sensitivity was 74%, with 100% specificity (i.e., no lesions detected in healthy or disease controls). In 50% of cases, a single cluster colocalized with the FCD lesion, while in the remaining cases a median of 1 extralesional cluster was found. Applying the classifier (trained on 3.0T data) to the 1.5T dataset yielded comparable performance (sensitivity 71%, specificity 95%). Conclusion: In patients initially diagnosed as MRI-negative, our fully automated multivariate approach offered a substantial gain in sensitivity over standard radiologic assessment. The proposed method showed generalizability across cohorts, scanners, and field strengths. Machine learning may assist presurgical decision-making by facilitating hypothesis formulation about the epileptogenic zone. Classification of evidence: This study provides Class II evidence that automated machine learning of MRI patterns accurately identifies FCD among patients with extratemporal epilepsy initially diagnosed as MRI-negative.

Several diseases related to anomalies of basement membrane components are known.1,2 Among these disorders, cerebral white matter involvement is well-documented with respect to mutations in COL4A1-2, coding for the α1 and α2 chains of collagen IV, as well as mutations in LAMA2, coding for laminin α2.2 Recently, mutations in another laminin-encoding gene, LAMB1, have been reported in patients presenting a severe malformative encephalopathy.3 We present 2 siblings from a nonconsanguineous family who extend the phenotype of the LAMB1 -related disorder. Acknowledgment: The authors thank all members of the reported family for their participation and Eleonore Eymard Pierre (Laboratoire de Cytogenetique Pr Philippe Vago, CHU de Clermont Ferrand, France) for taking care of the LeukoFrance Biobank.

Objective: To determine the most important factors influencing neuropsychological performance in children with intractable epilepsy due to focal cortical dysplasia and the nature of the interaction among significant variables. Methods: Surgical patients with histologically verified focal cortical dysplasia were retrospectively evaluated to determine the impact of histopathology, extent of lobar involvement, hemispheric laterality, age at onset, and duration of epilepsy on cognitive functioning. A composite neuropsychological variable was obtained by transforming data from 5 major cognitive domains using principal components analysis. Multiple regression was used to examine the unique contributions of predictor variables on composite cognition and Full Scale IQ. Data were qualitatively evaluated for nonstatistical trends. Results: Poor cognitive outcomes were associated with early age at onset of epilepsy (AOE) and widespread dysplastic involvement. Extent of dysplasia and AOE together accounted for 35% of Full Scale IQ variance, and 21% of composite cognitive performance. Each factor contributed independently to cognitive dysfunction. Conclusions: Early AOE disrupts critical periods of development and leads to poor cognitive outcome, but children with multilobar dysplasia are likely to have diminished cognitive skills regardless of AOE. Later AOE is not expected to mitigate deficits because of widespread pathology, nor would a localized lesion be likely to mollify the developmental deficits resulting from early AOE.

Objectives: Hippocampal abnormalities may coexist with malformations of cortical development (MCD). This cross-sectional MRI study aimed at categorizing hippocampal abnormalities in a large group of MCD and comparing MCD patients with (group W) and without (group W/O) hippocampal abnormalities. Methods: Hippocampal anatomy, rotation, size, internal structure, and MRI signal alterations were assessed visually by 3 independent raters in patients with MCD and epilepsy. Four types of hippocampal abnormalities were examined in 220 patients (116 women, mean age 31 ± 16.6, range 2-76 years): partially infolded/hypoplastic hippocampus (HH), hippocampal sclerosis (HS), malrotated hippocampus (MH), and enlarged hippocampus (EH). The commonest MCD in the cohort were focal cortical dysplasia (27%), polymicrogyria (PMG) (21%), developmental tumors (15%), and periventricular nodular heterotopia (PNH) (14%). Results: Hippocampal abnormalities were seen in 69/220 (31%) patients: HH in 34/69 (49%); HS in 18/69 (26%); MH in 15/69 (22%); and EH in 2/69 (3%). PNH (21/30 [70%]) and PMG (22/47 [47%]) were most commonly associated with hippocampal abnormalities. Compared to the W/O group, patients in the W group had a higher rate of learning disability (W 41/69 [59%] vs W/O 56/151 [37%]; p = 0.003) and delayed developmental milestones (W 36/69 [52%] vs W/O 53/151 [35%]; p = 0.025); groups did not differ otherwise with regard to clinical presentation. HH was associated with symptomatic generalized epilepsies (11/34 [32%]) and high rate of learning disability (27/34 [79%]), neurologic deficits (25/34 [73%]), and delayed developmental milestones (23/34 [68%]). Conclusions: About a third of patients with malformations of cortical development had hippocampal abnormalities. Patients with hypoplastic hippocampus had the most severe clinical phenotype.

Objective: To perform whole-brain morphometry in patients with frontal lobe epilepsy and evaluate the utility of group-level patterns for individualized diagnosis and prognosis. Methods: We compared MRI-based cortical thickness and folding complexity between 2 frontal lobe epilepsy cohorts with histologically verified focal cortical dysplasia (FCD) (13 type I; 28 type II) and 41 closely matched controls. Pattern learning algorithms evaluated the utility of group-level findings to predict histologic FCD subtype, the side of the seizure focus, and postsurgical seizure outcome in single individuals. Results: Relative to controls, FCD type I displayed multilobar cortical thinning that was most marked in ipsilateral frontal cortices. Conversely, type II showed thickening in temporal and postcentral cortices. Cortical folding also diverged, with increased complexity in prefrontal cortices in type I and decreases in type II. Group-level findings successfully guided automated FCD subtype classification (type I: 100%; type II: 96%), seizure focus lateralization (type I: 92%; type II: 86%), and outcome prediction (type I: 92%; type II: 82%). Conclusion: FCD subtypes relate to diverse whole-brain structural phenotypes. While cortical thickening in type II may indicate delayed pruning, a thin cortex in type I likely results from combined effects of seizure excitotoxicity and the primary malformation. Group-level patterns have a high translational value in guiding individualized diagnostics.

Objective: To determine clinical and EEG features that might help identify patients with epilepsy harboring small, intrinsically epileptogenic, surgically treatable, bottom-of-sulcus dysplasias (BOSDs). Methods: Retrospective review of clinical records, EEG, MRI, and histopathology in 32 patients with drug-resistant epilepsy and MRI-positive (72% 3.0 tesla), pathologically proven (type 2B cortical dysplasia) BOSDs operated at our centers during 2005–2013. Results: Localization of BOSDs was frontal in 19, insula in 5, parietal in 5, and temporal in 3, on the convexity or interhemispheric surfaces. BOSDs were missed on initial MRI at our centers in 22% of patients. Patients presented with focal seizures during infancy in 9, preschool years in 15, and school years in 8 (median age 5 years). Seizures were stereotyped, predominantly nocturnal, and typically nonconvulsive, with semiology referable to the fronto-central or perisylvian regions. Seizures occurred at high frequency during active periods, but often went into prolonged remission with carbamazepine or phenytoin. Intellect was normal or borderline, except in patients with seizure onset during infancy. Scalp EEG frequently revealed localized interictal epileptiform discharges and ictal rhythms. Patients underwent lesionectomy (median age 14 years) guided by electrocorticography and MRI, with prior intracranial EEG monitoring in only one patient. Twenty-eight patients (88%) became seizure-free, and 20 discontinued antiepileptic medication (median follow-up 4.1 years). Conclusions: In patients with cryptogenic focal epilepsy, this clinical presentation and course should prompt review of or repeat MRI, looking for a BOSD in the frontal, parietal, or insula cortex. If a BOSD is identified, the patient might be considered for single-stage lesionectomy.

A 45-year-old man without relevant family history presented with prune belly syndrome (PBS).1 He had a 34-year history of right simple partial motor seizures with and without secondary generalization, with a good response to carbamazepine monotherapy; there was no cognitive or social impairment. MRI showed global brain atrophy, ventricular asymmetry, left hemisphere schizencephaly, and bihemispheric heterotopias (figure, A–C). Although PBS is considered a mesoderm layer defect characterized by total or partial absence of abdominal muscles (figure, D), urinary tract abnormalities, and cryptorchidism of unknown etiology, involvement of other embryologic tissues has also been reported, including the ectodermic layer, as in this case.1,2

Objective:To improve phenotype definition in genetic studies of epilepsy, we assessed the familial aggregation of focal seizure types and of specific seizure symptoms within the focal epilepsies in families from the Epilepsy Phenome/Genome Project.Methods:We studied 302 individuals with nonacquired focal epilepsy from 149 families. Familial aggregation was assessed by logistic regression analysis of relatives’ traits (dependent variable) by probands’ traits (independent variable), estimating the odds ratio for each symptom in a relative given presence vs absence of the symptom in the proband.Results:In families containing multiple individuals with nonacquired focal epilepsy, we found significant evidence for familial aggregation of ictal motor, autonomic, psychic, and aphasic symptoms. Within these categories, ictal whole body posturing, diaphoresis, dyspnea, fear/anxiety, and déjà vu/jamais vu showed significant familial aggregation. Focal seizure type aggregated as well, including complex partial, simple partial, and secondarily generalized tonic-clonic seizures.Conclusion:Our results provide insight into genotype–phenotype correlation in the nonacquired focal epilepsies and a framework for identifying subgroups of patients likely to share susceptibility genes.

The presence of a discrete, removable lesion that appears to cause a patient's epilepsy is a powerful predictor of a favorable seizure outcome from epilepsy surgery.1 Since the MRI is initially interpreted as normal in about a quarter of surgical candidates,2 hunting for an inconspicuous, overlooked lesion is a habit of the epilepsy neurologist and neurosurgeon. The “needle in the haystack” often turns out to be focal cortical dysplasia (FCD), often only manifest on structural MRI by mild cortical thickening, minimal signal change, blurring of the gray–white junction, or subtly malformed sulcal or gyral surfaces.

Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Methods: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A . Results: Two novel heterozygous missense mutations in TUBA1A were identified: c.629A>G (p.Tyr210Cys) occurring de novo in a boy with lissencephaly, and c.13A>C (p.Ile5Leu) affecting 2 sisters with polymicrogyria whose mother presented somatic mosaicism for the mutation. Conclusions: Mutations in TUBA1A have been described in patients with lissencephaly and pachygyria. We report a mutation in TUBA1A as a cause of polymicrogyria. So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases. This article describes familial recurrence of TUBA1A mutations due to somatic mosaicism in a parent. These findings broaden the phenotypic spectrum associated with TUBA1A mutations and have implications for genetic counseling.

A 32-year-old man with somatosensory seizures due to bilateral perisylvian polymicrogyria, completely controlled with valproate 1,500 mg/day, presented to the epilepsy clinic with his wife, describing groaning several times a night (video on the Neurology ® Web site at [Neurology.org][1]). Nocturnal polysomnography showed no epileptic activity and revealed catathrenia (figures 1 and 2). He started continuous positive airway pressure (CPAP) 4–12 cm H2O and this resolved his complaints. [1]: http://www.neurology.org/

A 15-month-old girl presented with developmental delay, intractable right focal motor seizures, hyperpigmented patch on the left side of the face, facial asymmetry, and right hemiparesis (figure 1). A diagnosis of linear nevus sebaceous syndrome …

Although surgical resection has been an important alternative treatment for patients with intractable epilepsy related to focal cortical dysplasia (FCD), the prognostic relevance of the degree of pathologic severity is controversial and there has been only limited information regarding the prognostic factors involved in the surgical treatment of refractory epilepsy in patients with FCD.We undertook the present study to assess whether the pathologic subtypes of FCD affect surgical outcomes in patients with drug-resistant epilepsy. We also studied the prognostic roles of clinical factors and various diagnostic modalities in the surgical treatment.A total of 166 consecutive patients were included. By univariate analysis, incomplete resection of epileptogenic area (p0.001), mild pathologic features (p = 0.01), and the presence of secondary tonic clonic seizures (2GTCS) (p = 0.05) were associated with poor surgical outcomes. There was a strong tendency for patients with severe pathologic features to have MRI abnormalities (p0.001). Incomplete resection of epileptogenic area (p0.001) and mild pathologic features (p = 0.02) were poor independent outcome predictors on multivariate analysis. The results of MRI, scalp EEG, fluorodeoxyglucose-PET, and ictal SPECT were not associated with surgical outcomes.Our study shows that there is a strong tendency for patients with severe pathologic features to have MRI abnormalities, and patients with incomplete resection, mild pathologic features, or the presence of secondary tonic clonic seizures have a high chance of a poorer surgical outcome.

A 55-year-old man presented with seizures characterized by “tightening” of the right side and variable loss of awareness. EEG showed focal epileptogenic abnormalities over left and midline central regions. MRI showed left frontal focal cortical dysplasia (figure 1). He had multiple skin lesions (figure 2) and colonoscopy revealed gastrointestinal mucosal ganglioneuromas. Genetic testing of PTEN gene confirmed a diagnosis of Cowden syndrome (CS).

Cortical dysplasias cause pharmacoresistant epilepsy and are amenable to surgical treatment, but their detection relies on expert visual analysis of MRI. Variability in MRI interpretation, false-positives, and false-negatives are problematic. Therefore, validated, accurate, automated algorithms to identify cortical dysplasias would be a great step forward. Hong et al.1 describe such an algorithm for type II cortical dysplasias.