Brain malformations represent a heterogeneous group of abnormalities of neural morphogenesis, often associated with aberrations of neuronal connectivity and brain volume. Prenatal detection of brain malformations requires a clear understanding of embryology and developmental morphology through the various stages of gestation. This expert panel review is written with the central aim of providing an easy-to-understand roadmap to improve prenatal detection and characterization of structural malformations based on the current understanding of normal and aberrant brain development. The utility of each available neuroimaging modality including prenatal multiplanar neurosonography, anatomical magnetic resonance imaging (MRI), and advanced MRI techniques, as well as further insights from post-mortem imaging have been highlighted for every developmental stage.

暂无摘要。

There is insufficient evidence regarding the efficacy of epilepsy surgery in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 (dishevelled EGL-10 and pleckstrin domain-containing protein 5) pathogenic (P), likely pathogenic (LP), or variance of unknown significance (VUS) variants. To conduct a systematic review on the literature regarding the use and efficacy of epilepsy surgery as an intervention for patients with DEPDC5 variants who have pharmacoresistant epilepsy. A systematic review of the current literature published regarding the outcomes of epilepsy surgery for patients with DEPDC5 variants was conducted. Demographics and individual patient data were recorded and analyzed. Subsequent statistical analysis was performed to assess significance of the findings. A total of eight articles comprising 44 DEPDC5 patients with genetic variants undergoing surgery were included in this study. The articles primarily originated in high-income countries (5/8, 62.5%). The average age of the subjects was 10.06 ± 9.41 years old at the time of study. The most common form of epilepsy surgery was focal resection (38/44, 86.4%). Thirty-seven of the 40 patients (37/40, 92.5%) with reported seizure frequency results had improvement. Twenty-nine out of 38 patients (29/38, 78.4%) undergoing focal resection achieved Engel Score I postoperatively, and two out of four patients achieved International League Against Epilepsy I (50%). Epilepsy surgery is effective in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 P, LP, or VUS variants.

Focal cortical dysplasia (FCD) is the most frequent etiology of operable pharmacoresistant epilepsy in children. There is burgeoning evidence that FCD-related epilepsy is a disorder that involves distributed brain networks. Functional magnetic resonance imaging (fMRI) is a tool that allows one to infer neuronal activity and to noninvasively map whole-brain functional networks. Despite its relatively widespread availability at most epilepsy centers, the clinical application of fMRI remains mostly task-based in epilepsy. Another approach is to map and characterize cortical functional networks of individuals using resting state fMRI (rsfMRI). The focus of this scoping review is to summarize the evidence to date of investigations of the network basis of FCD-related epilepsy, and to highlight numerous potential future applications of rsfMRI in the exploration of diagnostic and therapeutic strategies for FCD-related epilepsy. There are numerous studies demonstrating a global disruption of cortical functional networks in FCD-related epilepsy. The underlying pathological subtypes of FCD influence overall functional network patterns. There is evidence that cortical functional network mapping may help to predict postsurgical seizure outcomes, highlighting the translational potential of these findings. Additionally, several studies emphasize the important effect of FCD interaction with cortical networks and the expression of epilepsy and its comorbidities.

UNASSIGNED: Mutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of DYNC1H1 and review the relevant literature to explore genotype-phenotype relationships.
UNASSIGNED: A girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy. Brain magnetic resonance imaging (MRI) at 14 months-of-age revealed pachygyria. At 4 years-of-age, the patient exhibited severe developmental delay and mental retardation. A de novo heterozygous mutation (p.Arg292Trp) in the DYNC1H1 gene was identified. A search of multiple databases, including PubMed and Embase, using the search strategy DYNC1H1 AND [malformations of cortical development OR seizure OR intellectual OR clinical symptoms] up to June 2022, identified 129 patients from 43 studies (including the case presented herein). A review of these cases showed that patients with DYNC1H1-related MCD had higher risks of epilepsy (odds ratio [OR] = 33.67, 95% confidence interval [CI] = 11.59, 97.84) and intellectual disability/developmental delay (OR = 52.64, 95% CI = 16.27, 170.38). Patients with the variants in the regions encoding the protein stalk or microtubule-binding domain had the most prevalence of MCD (95%).
UNASSIGNED: MCD, particularly pachygyria, is a common neurodevelopmental disorder in patients with DYNC1H1 mutations. Literature searches reveales that most (95%) patients who carried mutations in the protein stalk or microtubule binding domains exhibited DYNC1H1-related MCD, whereas almost two-thirds of patients (63%) who carried mutations in the tail domain did not display MCD. Patients with DYNC1H1 mutations may experience central nervous system (CNS) manifestations due to MCD.

Resection and disconnection surgeries for epilepsy in the pediatric demographic (patients ≤ 18 years of age) are two separate, definitive intervention options in medically refractory cases. Questions remain regarding the role of surgery when seizures persist after an initial incomplete surgery. The aim of this study was to review the contemporary literature and summarize the metadata on the outcomes of repeat surgery in this specific demographic.
Searches of seven electronic databases from inception to July 2022 were conducted using PRISMA guidelines. Articles were screened using prespecified criteria. Metadata from the articles were abstracted and pooled by random-effects meta-analysis of proportions.
Eleven studies describing 12 cohorts satisfied all criteria, reporting outcomes of 170 pediatric patients with epilepsy who underwent repeat resection or disconnection surgery. Of these patients, 55% were male, and across all studies, median ages at initial and repeat surgeries were 7.2 and 9.4 years, respectively. The median follow-up duration after repeat surgery was 47.7 months. The most commonly reported etiology for epilepsy was cortical dysplasia. Overall, the estimated incidence of complete seizure freedom (Engel class I) following repeat surgery was 48% (95% CI 40%-56%, p value for heterogeneity = 0.93), and the estimated incidence of postoperative complications following repeat surgery was 25% (95% CI 12%-39%, p = 0.04). There were six cohorts each that described outcomes for repeat resection and repeat disconnection surgeries. There was no statistical difference between these two subgroups with respect to estimated incidence of complete seizure freedom (p value for interaction = 0.92), but postoperative complications were statistically more common following repeat resection (p ≤ 0.01).
For both resection and disconnection surgeries, repeat epilepsy surgery in children is likely to confer complete seizure freedom in approximately half of the patients who experience unsuccessful initial incomplete epilepsy surgery. More data are needed to elucidate the impact on efficacy based on surgical approach selection. Judicious discussion and planning between the patient, family, and a multidisciplinary team of epilepsy specialists is recommended to optimize expectations and outcomes in this setting.

Malformations of cortical development (MCDs) are common causes of drug-resistant epilepsy. The mechanisms underlying the associated epileptogenesis and ictogenesis remain poorly elucidated. EEG can help in understanding these mechanisms. We systematically reviewed studies reporting scalp or intracranial EEG features of MCDs to characterise interictal and seizure-onset EEG patterns across different MCD types.
We conducted a systematic review in accordance with PRISMA guidelines. MEDLINE, PubMed, and Cochrane databases were searched for studies describing interictal and seizure-onset EEG patterns in MCD patients. A classification framework was implemented to group EEG features into 20 predefined patterns, comprising nine interictal (five, scalp EEG; four, intracranial EEG) and 11 seizure-onset (five, scalp EEG; six, intracranial EEG) patterns. Logistic regression was used to estimate the odds ratios (OR) of each seizure-onset pattern being associated with specific MCD types.
Our search yielded 1682 studies, of which 27 comprising 936 MCD patients were included. Of the nine interictal EEG patterns, five (three, scalp EEG; two, intracranial EEG) were detected in ≥2 MCD types, while four (rhythmic epileptiform discharges type 1 and type 2 on scalp EEG; repetitive bursting spikes and sporadic spikes on intracranial EEG) were seen only in focal cortical dysplasia (FCD). Of the 11 seizure-onset patterns, eight (three, scalp EEG; five, intracranial EEG) were found in ≥2 MCD types, whereas three were observed only in FCD (suppression on scalp EEG; delta brush on intracranial EEG) or tuberous sclerosis complex (TSC; focal fast wave on scalp EEG). Among scalp EEG seizure-onset patterns, paroxysmal fast activity (OR = 0.13; 95% CI: 0.03-0.53; p = 0.024) and repetitive epileptiform discharges (OR = 0.18; 95% CI: 0.05-0.61; p = 0.036) were less likely to occur in TSC than FCD. Among intracranial EEG seizure-onset patterns, low-voltage fast activity was more likely to be detected in heterotopia (OR = 19.3; 95% CI: 6.22-60.1; p < 0.001), polymicrogyria (OR = 6.70; 95% CI: 2.25-20.0; p = 0.004) and TSC (OR = 4.27; 95% CI: 1.88-9.70; p = 0.005) than FCD.
Different MCD types can share similar interictal or seizure-onset EEG patterns, reflecting common underlying biological mechanisms. However, selected EEG patterns appear to point to distinct MCD types, suggesting certain differences in their neuronal networks.

Focal cortical dysplasia (FCD) is a most common cause of intractable focal epilepsy in children. Surgery is considered as a radical option for such patients with the prerequisite of lesion detection. Magnetic resonance imaging (MRI) plays a significant role in detection of FCDs in epilepsy patients; however, the detection of FCDs even in epilepsy dedicated MRI sequence shows relatively low positive rate. Last year, Middlebrooks et al introduced the novel three-dimensional Edge-Enhancing Gradient Echo (3D-EDGE) MRI sequence and using this sequence successfully identified five cases of FCDs which indicates its potential role in those epilepsy patients who may have FCDs.
We present a 14-year-old, right-handed, male patient who has suffered from drug-resistant epilepsy over the past 3 years. It was unable to localize the lesion of the seizure, even using the series of epilepsy dedicated MRI sequences. Inspired by the previous report, the lesion of the seizure was successfully targeted by 3D-EDGE sequence. Combined with intraoperative navigation and precisely removed the lesion. He was uneventfully recovered with no signs of cerebral dysfunction and no seizure recurrence 8 months after surgery.
The 3D-EDGE sequences show a higher sensitivity for FCD detection in epilepsy patients compared with a series of epilepsy-dedicated MRI protocols. We confirmed that the study by Middlebrooks et al is of great clinical value. If the findings on routine MRI sequences or even epilepsy-dedicated MRI sequences were reported as negative, however, the semiology, video-electroencephalography, and fluorodeoxyglucose-positron emission tomography results suggest a local abnormality, and the results are concordant with each other, a 3D-EDGE sequence may be a good option.

BACKGROUND: Focal epilepsy can have a varied etiology, including malformations of cortical development (MCD), that can often be detected by Magnetic Resonance Imaging (MRI).Here we show a distinct characteristic of two forms of MCDs on MRI, with two tight dipole clusters in her MEG magnetoencephalography study, in a patient with electroencephalography (EEG) features of generalized epilepsy.
METHODS: This is a case presentation of a 20 years old female with epilepsy, found to have upon EMU admission two pathologies (FCD, heterotropia) over the right side near the collateral sulcus, and two tight clusters of dipoles over the right parietal and left temporo-parietal region, with generalized inter ictal discharges in her EEG. FCD is a common etiology of medically intractable seizures and usually in EEG it will show either: pseudo-periodic spikes or rhythmic spikes, poly-spike or repetitive electrographic seizures or a brief discharge of fast rhythmic activity, atypical presentation with generalized epileptiform discharges were rarely reported.
CONCLUSIONS: The presence of MCD does not preclude a patient from having other types of epilepsy. Generalized epilepsy and focal related epilepsy have a distinct pathophysiology.

OBJECTIVE: Polymorphous low-grade neuroepithelial tumors of the young (PLNTY) is a newly recognized brain tumor with genetic abnormalities frequently involving either BRAF or FGFR2/FGFR3. There are few publications available about the neuroradiological features of PLNTY. In this systematic review, we assessed the demographic, clinical, and neuroradiological features of PLNTY.
METHODS: Literature data were extracted from database searches in MEDLINE and SCOPUS databases up to June 10, 2021. Studies reporting on pathologically proven PLNTY with neuroradiological findings were included. After reviewing 103 abstracts, 9 articles encompassing 19 cases met the inclusion criteria. We also added five patients from our hospital. The correlations between the presence of \"transmantle-like sign\" and the following three factors: duration of seizures; tumor size; and pathologically proven cortical dysplasia, were examined.
RESULTS: The median patient age was 15.5 years (range, 5-57 years), and 15/24 (62.5%) were female. All tumors were localized supratentorialy. The main radiological features included cortical or subcortical masses (95.8%) in the temporal lobe (66.7%), calcification (83.3%), well-defined margins (72.7%), solid and cystic components (66.6%), and T2-weighted imaging (T2WI) hyperintensity (50.0%). The duration of seizure was significantly longer (positive vs. negative (median [range]), 24 months [6 - 96 months] vs. 5 months [1 - 12 months], p = 0.042), and the presence of the cortical dysplasia was significantly more frequent (3/8 vs 0/16, p = 0.042) in the patients with transmantle-like sign.
CONCLUSIONS: PLNTY typically represents a calcified, well-defined mass in the supratentorial cortical or subcortical regions. The radiological findings defined here could facilitate the diagnosis of PLNTY.