A case report of a 68-year-old otherwise-healthy female patient with Spetzler-Martin (SM) grade I arteriovenous malformation (AVM) in her left frontal region is presented. After an uneventful surgery, cerebral venous infarction developed, and the patient was rendered hemiparetic with motor aphasia. After bony decompression, slow improvement was seen, and 3 months after surgery, the patient was neurologically intact. Six months after AVM resection, cranioplasty was performed. Infarction was caused by the thrombosis of a long primary draining vein, which finished its course in the normal cortical venous system. The case supports the venous origin of postoperative bleeding after AVM resection instead of the normal perfusion pressure phenomenon.

• Keywords
• Cerebral arteriovenous malformation, venous occlusive disease,
• MeSH
• Cerebral Infarction * etiology   surgery   MeSH
• Intracranial Arteriovenous Malformations * surgery   complications   MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Cerebral Veins surgery   diagnostic imaging   MeSH
• Postoperative Complications etiology   surgery   MeSH
• Aged MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

Cantrell's pentalogy is a rare syndrome associated with a midline embryological defect involving a series of malformations: anomalies of the lower sternum, anterior diaphragm, heart, and anterior abdominal wall. It can be classified as complete, probable or partial, but the most important thing is to describe and understand the anomalies involved. We describe a case of a late diagnosis of Cantrell's pentalogy at 35 weeks and 5 days of pregnancy in a woman from the interior of Pará state, an Amazon Brazilian region. Fetal echocardiography confirmed the diagnosis of Cantrell's pentalogy with tetralogy of Fallot and ultrasound examination showing a bilateral clubfoot. Cesarean section was performed at 36 weeks because of pre-eclampsia superimposed on chronic arterial hypertension with signs of severity. The male newborn was delivered weighting 2,320 grams. Postnatal echocardiography confirmed the diagnosis of Cantrell's pentalogy and karyotype was normal (46, XY). Infant was discharged at 47 days of age with good weight gain, artificial breastfeeding, and outpatient follow-up by the cardiology and cardiac surgery specialists.

• Keywords
• fetal echocardiography, pentalogy of Cantrell, prenatal diagnosis, tetralogy of Fallot,
• MeSH
• Pentalogy of Cantrell * diagnostic imaging   diagnosis   MeSH
• Adult MeSH
• Echocardiography MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Delayed Diagnosis MeSH
• Pregnancy MeSH
• Ultrasonography, Prenatal * MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

Besides deficits in social communication and interaction, repetitive behavior patterns are core manifestations of autism spectrum disorder (ASD). Phenotypes are heterogeneous and can range from simple lower-order motor stereotypies to more complex higher-order cognitive inflexibility and fixated interests. Due to ASD's multifaceted etiology, animal models are often generated from monogenic diseases associated with ASD, such as Tuberous Sclerosis Complex (TSC), and are expected to copy behavioral core deficits to increase the model´s translational value for ASD disease research and novel treatment development. The global haploinsufficient Tsc2+/- Eker rat model has been shown to display ASD core symptoms in the social domain. However, the presence and extent of aberrant repetitive behavior patterns in the Eker rat remain to be investigated. Thus, the present study applied a set of behavioral tests to determine the repetitive behavioral profile in Tsc2+/- Eker rats and used brain-region-specific neurotransmitter analysis to support findings on a molecular level. Tsc2+/- animals demonstrated lower-order repetitive behavior in the form of excessive self-grooming and nestlet shredding under non-stressful conditions that co-occurred alongside social interaction deficits. However, no higher-order repetitive behavior was detected in Tsc2+/- rats. Interestingly, Tsc2+/- rats exhibited increased levels of homeostatic dopamine in the prefrontal cortex, supporting the link between aberrant cortical dopaminergic transmission and the appearance of lower-order repetitive phenotypes. Together, our results support the Tsc2+/- Eker rat as a model of ASD-like behavior for further investigation of ASD-related development and neurobiology.

• Keywords
• Autism spectrum disorder, Eker rat, Repetitive behavior, Tuberous sclerosis complex,
• MeSH
• Autistic Disorder * genetics   MeSH
• Behavior, Animal physiology   MeSH
• Dopamine metabolism   MeSH
• Phenotype MeSH
• Haploinsufficiency MeSH
• Rats MeSH
• Disease Models, Animal MeSH
• Brain metabolism   MeSH
• Grooming physiology   MeSH
• Autism Spectrum Disorder * genetics   metabolism   physiopathology   MeSH
• Rats, Transgenic MeSH
• Social Behavior MeSH
• Social Interaction MeSH
• Stereotyped Behavior * physiology   MeSH
• Tuberous Sclerosis Complex 2 Protein * genetics   metabolism   MeSH
• Tuberous Sclerosis genetics   MeSH
• Animals MeSH
• Check Tag
• Rats MeSH
• Male MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Names of Substances
• Dopamine MeSH
• Tsc2 protein, rat MeSH Browser
• Tuberous Sclerosis Complex 2 Protein * MeSH

OBJECTIVE: Congenital microcephaly is a diverse group of congenital anomalies characterized by a significantly reduced head circumference at birth. The incidence varies widely across regions. This study focuses on the incidence of microcephaly in the Czech Republic. METHODS: A retrospective analysis was conducted using data from the National Registry of Congenital Anomalies of the Czech Republic. All cases coded as microcephaly (Q02 code in the 10th revision of the International Classification of Diseases) between 2000 and 2020 were included. RESULTS: A total of 274 cases of congenital microcephaly were identified, with an incidence rate of 1.22 per 10,000 births. The sex ratio was significantly skewed toward females (0.63:0.37). Microcephaly was significantly more frequent among mothers aged less than 25 years (1.68 per 10,000) and over 35 years (1.51 per 10,000), compared to those aged 25-34 years (1.03 per 10,000). CONCLUSION: This research provides the most detailed population-based estimate of congenital microcephaly in the Czech Republic. The study reports a lower relative incidence compared to many other countries. The findings highlight significant associations with maternal age and a notable female predominance, warranting further investigation into genetic and biological mechanisms.

• Keywords
• Congenital anomalies, Czech Republic, Incidence, Maternal age, Microcephaly,
• MeSH
• Adult MeSH
• Incidence MeSH
• Middle Aged MeSH
• Humans MeSH
• Microcephaly * epidemiology   MeSH
• Adolescent MeSH
• Young Adult MeSH
• Infant, Newborn MeSH
• Registries MeSH
• Retrospective Studies MeSH
• Maternal Age * MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Infant, Newborn MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Czech Republic epidemiology   MeSH

BACKGROUND: Open surgery is widely regarded as the standard treatment for spinal dural arteriovenous fistulas (SDAVFs). However, endovascular treatment (EVT) with liquid embolic agents has emerged as an alternative. While N-butyl cyanoacrylate is often preferred for its superior penetration into draining vein, this study aims to assess the effectiveness of an embolization-first strategy using Onyx, drawing on 20 years of clinical experience. METHODS: A retrospective analysis included 50 patients treated between 2004 and 2024. Only patients undergoing EVT as the first-line therapy for SDAVF were included. RESULTS: Overall, EVT achieved complete occlusion in 38 (76%) cases, with an additional 6 (12%) requiring adjuvant surgery resulting in definitive cure. In the remaining 6 (12%) patients, embolization of the feeding artery and fistula nidus led to permanent clinical improvement (n = 4, 66%) or stability (n = 2, 33%), supported by indirect fistula signs regression on follow-up magnetic resonance imaging. Onyx was solely used in 84% of EVTs, achieving a complete occlusion rate of 83%. Clinical improvement or stabilization was observed in 46 (92%) patients, with no recurrences in successfully treated patients. There was no EVT-related complication. Follow-up magnetic resonance imagings showed regression of perimedullary varices and regression or stability of myelopathy in all cases (n = 50, 100%). CONCLUSIONS: The embolization-first strategy, with adjuvant surgery when necessary, can achieve outcomes nearing those of purely surgical approaches. Based on our long-term experience, EVT with Onyx can result in complete and permanent cure of SDAVF in more than 80% of cases.

• Keywords
• Endovascular treatment, Onyx, Spinal dural arteriovenous fistula,
• MeSH
• Central Nervous System Vascular Malformations * therapy   diagnostic imaging   MeSH
• Dimethyl Sulfoxide * therapeutic use   MeSH
• Adult MeSH
• Endovascular Procedures methods   MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Polyvinyls * therapeutic use   MeSH
• Retrospective Studies MeSH
• Aged MeSH
• Tantalum * therapeutic use   MeSH
• Embolization, Therapeutic * methods   MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Names of Substances
• Dimethyl Sulfoxide * MeSH
• Onyx copolymer MeSH Browser
• Polyvinyls * MeSH
• Tantalum * MeSH

BACKGROUND AND OBJECTIVES: Stereotactic radiosurgery (SRS) with neoadjuvant embolization is a treatment strategy for brain arteriovenous malformations (AVMs), especially for those with large nidal volume or concomitant aneurysms. The aim of this study was to assess the effects of pre-SRS embolization in AVMs with an associated intracranial aneurysm (IA). METHODS: The International Radiosurgery Research Foundation AVM database from 1987 to 2018 was retrospectively reviewed. SRS-treated AVMs with IAs were included. Patients were categorized into those treated with upfront embolization (E + SRS) vs stand-alone SRS (SRS). Primary end point was a favorable outcome (AVM obliteration + no permanent radiation-induced changes or post-SRS hemorrhage). Secondary outcomes included AVM obliteration, mortality, follow-up modified Rankin Scale, post-SRS hemorrhage, and radiation-induced changes. RESULTS: Forty four AVM patients with associated IAs were included, of which 23 (52.3%) underwent pre-SRS embolization and 21 (47.7%) SRS only. Significant differences between the E + SRS vs SRS groups were found for AVM maximum diameter (1.5 ± 0.5 vs 1.1 ± 0.4 cm 3 , P = .019) and SRS treatment volume (9.3 ± 8.3 vs 4.3 ± 3.3 cm 3 , P = .025). A favorable outcome was achieved in 45.4% of patients in the E + SRS group and 38.1% in the SRS group ( P = .625). Obliteration rates were comparable (56.5% for E + SRS vs 47.6% for SRS, P = .555), whereas a higher mortality rate was found in the SRS group (19.1% vs 0%, P = .048). After adjusting for AVM maximum diameter, SRS treatment volume, and maximum radiation dose, the likelihood of achieving favorable outcome and AVM obliteration did not differ between groups ( P = .475 and P = .820, respectively). CONCLUSION: The likelihood of a favorable outcome and AVM obliteration after SRS with neoadjuvant embolization in AVMs with concomitant IA seems to be comparable with stand-alone SRS, even after adjusting for AVM volume and SRS maximum dose. However, the increased mortality among the stand-alone SRS group and relatively low risk of embolization-related complications suggest that these patients may benefit from a combined treatment approach.

• MeSH
• Adult MeSH
• Intracranial Aneurysm * therapy   complications   diagnostic imaging   MeSH
• Intracranial Arteriovenous Malformations * therapy   complications   MeSH
• Combined Modality Therapy MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Neoadjuvant Therapy methods   MeSH
• Radiosurgery * methods   MeSH
• Retrospective Studies MeSH
• Aged MeSH
• Embolization, Therapeutic * methods   MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Comparative Study MeSH

OBJECTIVE: We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes. METHODS: We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow-up. We systematically reanalyzed clinical, electrophysiological, and radiological features. The results of this reanalysis served as independent variables for subsequent statistical analyses of outcome predictors. RESULTS: All children (N = 31) had drug-resistant epilepsy with varying impacts on neurodevelopment and cognition (presurgical intelligence quotient [IQ]/developmental quotient scores = 32-106). Low presurgical IQ was associated with abnormal slow background electroencephalographic (EEG) activity and disrupted sleep architecture. Scalp EEG showed predominantly multiregional and often bilateral epileptiform activity. Advanced epilepsy magnetic resonance imaging (MRI) protocols identified FCD-specific features in 74.2% of patients (23/31), 17 of whom were initially evaluated as MRI-negative. In six of eight MRI-negative cases, fluorodeoxyglucose-positron emission tomography (PET) and subtraction ictal single photon emission computed tomography coregistered to MRI helped localize the dysplastic cortex. Sixteen patients (51.6%) underwent invasive EEG. By the last follow-up (median = 5 years, interquartile range = 3.3-9 years), seizure freedom was achieved in 71% of patients (22/31), including seven of eight MRI-negative patients. Antiseizure medications were reduced in 21 patients, with complete withdrawal in six. Seizure outcome was predicted by a combination of the following descriptors: age at epilepsy onset, epilepsy duration, long-term invasive EEG, and specific MRI and PET findings. SIGNIFICANCE: This study highlights the broad phenotypic spectrum of FCD type 1, which spans far beyond the narrow descriptions of previous studies. The applied multilayered presurgical approach helped localize the epileptogenic zone in many previously nonlesional cases, resulting in improved postsurgical seizure outcomes, which are more favorable than previously reported for FCD type 1 patients.

• Keywords
• drug‐resistant epilepsy, epilepsy surgery, focal cortical dysplasia type 1, multilayered diagnostic protocol, pediatric patients,
• MeSH
• Child MeSH
• Electroencephalography MeSH
• Focal Cortical Dysplasia MeSH
• Cohort Studies MeSH
• Infant MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Malformations of Cortical Development, Group I * complications   surgery   physiopathology   diagnostic imaging   MeSH
• Adolescent MeSH
• Follow-Up Studies MeSH
• Positron-Emission Tomography MeSH
• Child, Preschool MeSH
• Drug Resistant Epilepsy * surgery   diagnostic imaging   physiopathology   etiology   MeSH
• Treatment Outcome MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

OBJECTIVE: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance imaging (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort and assessed to what extent VABAM-related symptoms were reported in TSC infants. METHODS: The Dutch TSC Registry and the EPISTOP cohort provided retrospective and prospective data from 80 TSC patients treated with vigabatrin (VGB) before the age of 2 years and 23 TSC patients without VGB. Twenty-nine age-matched non-TSC epilepsy patients not receiving VGB were included as controls. VABAM, specified as T2/fluid-attenuated inversion recovery hyperintensity or diffusion restriction in predefined brain areas, were examined on brain MRI before, during, and after VGB, and once in the controls (at approximately age 2 years). Additionally, the presence of VABAM accompanying symptoms was evaluated. RESULTS: Prevalence of VABAM in VGB-treated TSC patients was 35.5%. VABAM-like abnormalities were observed in 13.5% of all patients without VGB. VGB was significantly associated with VABAM (risk ratio [RR] = 3.57, 95% confidence interval [CI] = 1.43-6.39), whereas TSC and refractory epilepsy were not. In all 13 VGB-treated patients with VABAM for whom posttreatment MRIs were available, VABAM entirely resolved after VGB discontinuation. The prevalence of symptoms was 11.7% in patients with VABAM or VABAM-like MRI abnormalities and 4.3% in those without, implicating no significant association (RR = 2.76, 95% CI = .68-8.77). SIGNIFICANCE: VABAM are common in VGB-treated TSC infants; however, VABAM-like abnormalities also occurred in children without either VGB or TSC. The cause of these MRI changes is unknown. Possible contributing factors are abnormal myelination, underlying etiology, recurrent seizures, and other antiseizure medication. Furthermore, the presence of VABAM (or VABAM-like abnormalities) did not appear to be associated with clinical symptoms. This study confirms that the well-known antiseizure effects of VGB outweigh the risk of VABAM and related symptoms.

• Keywords
• brain MRI, epilepsy, tuberous sclerosis complex, vigabatrin,
• MeSH
• Anticonvulsants * adverse effects   therapeutic use   MeSH
• Epilepsy drug therapy   diagnostic imaging   MeSH
• Cohort Studies MeSH
• Infant MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Brain * diagnostic imaging   drug effects   MeSH
• Child, Preschool MeSH
• Prospective Studies MeSH
• Retrospective Studies MeSH
• Tuberous Sclerosis * drug therapy   diagnostic imaging   MeSH
• Vigabatrin * adverse effects   therapeutic use   MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Names of Substances
• Anticonvulsants * MeSH
• Vigabatrin * MeSH

OBJECTIVE: Epilepsy surgery in the operculoinsular cortex is challenging due to the difficult delineation of the epileptogenic zone and the high risk of postoperative deficits. METHODS: Pre- and postsurgical data from 30 pediatric patients who underwent operculoinsular cortex surgery at the Motol Epilepsy Center Prague from 2010 to 2022 were analyzed. RESULTS: Focal cortical dysplasia (FCD; n = 15, 50%) was the predominant cause of epilepsy, followed by epilepsy-associated tumors (n = 5, 17%) and tuberous sclerosis complex (n = 2, 7%). In eight patients where FCD was the most likely etiology, the histology was negative. Seven patients (23%) displayed normal magnetic resonance imaging results. Seizures exhibited diverse semiology and propagation patterns (frontal, perisylvian, and temporal). The ictal and interictal electroencephalographic (EEG) findings were mostly extensive. Multimodal imaging and advanced postprocessing were frequently used. Stereo-EEG was used for localizing the epileptogenic zone and eloquent cortex in 23 patients (77%). Oblique electrodes were used as guides for better neurosurgeon orientation. The epileptogenic zone was in the dominant hemisphere in 16 patients. At the 2-year follow-up, 22 patients (73%) were completely seizure-free, and eight (27%) experienced a seizure frequency reduction of >50% (International League Against Epilepsy class 3 and 4). Fourteen patients (47%) underwent antiseizure medication tapering; treatment was completely withdrawn in two (7%). Nineteen patients (63%) remained seizure-free following the definitive outcome assessment (median = 6 years 5 months, range = 2 years to 13 years 5 months postsurgery). Six patients (20%) experienced corona radiata or basal ganglia ischemia; four (13%) improved to mild and one (3%) to moderate hemiparesis. Two patients (7%) operated on in the anterior insula along with frontotemporal resection experienced major complications: pontine ischemia and postoperative brain edema. SIGNIFICANCE: Epilepsy surgery in the operculoinsular cortex can lead to excellent patient outcomes. A comprehensive diagnostic approach is crucial for surgical success. Rehabilitation brings a great chance for significant recovery of postoperative deficits.

• Keywords
• PET, SEEG, SISCOM, epilepsy surgery, multimodal imaging, opercular–insular epilepsy, partial‐volume effect correction,
• MeSH
• Child MeSH
• Electroencephalography MeSH
• Epilepsy, Frontal Lobe * surgery   physiopathology   diagnostic imaging   etiology   MeSH
• Cohort Studies MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Malformations of Cortical Development complications   surgery   MeSH
• Adolescent MeSH
• Neurosurgical Procedures * methods   MeSH
• Child, Preschool MeSH
• Tuberous Sclerosis complications   MeSH
• Treatment Outcome MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Neural tube defects (NTDs) are malformations of the central nervous system that represent the second most common cause of congenital morbidity and mortality, following cardiovascular abnormalities. Maternal nutrition, particularly folic acid, a B vitamin, is crucial in the etiology of NTDs. FA plays a key role in DNA methylation, synthesis, and repair, acting as a cofactor in one-carbon transfer reactions essential for neural tube development. Randomized trials have shown that FA supplementation during preconceptional and periconceptional periods reduces the incidence of NTDs by nearly 80%. Consequently, it is recommended that all women of reproductive age take 400 µg of FA daily. Many countries have introduced FA fortification of staple foods to prevent NTDs, addressing the high rate of unplanned pregnancies. These policies have increased FA intake and decreased NTD incidence. Although the precise mechanisms by which FA protects against NTDs remain unclear, compelling evidence supports its efficacy in preventing most NTDs, leading to national recommendations for FA supplementation in women. This review focuses on preconceptional and periconceptional FA supplementation in the female population of the Visegrad Group countries (Slovakia, Czech Republic, Poland, and Hungary). Our findings emphasize the need for a comprehensive approach to NTDs, including FA supplementation programs, tailored counseling, and effective national-level policies.

• Keywords
• folic acid, fortification, neural tube defects, polymorphisms, prevention, recommendations, supplementation,
• MeSH
• Neural Tube Defects * prevention & control   epidemiology   MeSH
• Maternal Nutritional Physiological Phenomena MeSH
• Folic Acid * administration & dosage   MeSH
• Humans MeSH
• Preconception Care * methods   MeSH
• Dietary Supplements * MeSH
• Pregnancy MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Review MeSH
• Geographicals
• Czech Republic epidemiology   MeSH
• Poland MeSH
• Names of Substances
• Folic Acid * MeSH