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Malformations of the polymicrogyria spectrum can be mimicked in rodents through neonatal transcranial focal cortical freeze lesions. The animals presenting the malformations present both altered synaptic events and epileptiform activity in the vicinity of the microgyrus, but the comprehension of their contribution to increased predisposition or severity of seizures require further studies.In order to investigate these issues, we induced both microgyria and schizencephaly in 57 mice and evaluated: their convulsive susceptibility and severity after pentyleneterazol (PTZ) treatment, the quantification of their symmetric and asymmetric synapses, the morphology of their dendritic arbors, and the content of modulators of synaptogenesis, such as SPARC, gephyrin and GAP-43 within the adjacent visual cortex.Our results have shown that only schizencephalic animals present increased convulsive severity. Nevertheless, both microgyric and schizencephalic cortices present increased synapse number and dendritic complexity of layer IV and layer V-located neurons. Specifically, the microgyric cortex presented reduced inhibitory synapses, while the schizencephalic cortex presented increased excitatory synapses. This altered synapse number is correlated with decreased content of both the anti-synaptogenic factor SPARC and the inhibitory postsynaptic organizer gephyrin in both malformed groups. Besides, GAP-43 content and dendritic spines number are enhanced exclusively in schizencephalic cortices.In conclusion, our study supports the hypothesis that the sum of synaptic alterations drives to convulsive aggravation in animals with schizencephaly, but not microgyria after PTZ treatment. These findings reveal that different malformations of cortical development should trigger epilepsy via different mechanisms, requiring further studies for development of specific therapeutic interventions.

To investigate the relationship between the anatomical features of schizencephaly and characteristics of epilepsy.We retrospectively evaluated patients diagnosed with schizencephaly using brain magnetic resonance imaging. Seizure outcomes were evaluated as drug-resistant epilepsy and frequent seizures (more than once a month) during the previous year. Development of epilepsy, seizure outcomes, and clinical variables were compared according to the anatomical features of schizencephaly, such as cleft type, size, bilaterality, presence of cortical dysplasia, and temporal lobe involvement.Of the 76 patients with schizencephaly-related epilepsy, 28 (36.8%) had open lip clefts, and 13 (17.1%) had bilateral clefts. The development of epilepsy was related to a larger cleft size and the presence of cortical dysplasia. The patients with medium-to-large clefts were younger at seizure onset than those with small clefts (9.7±7.8 vs. 20.8±10.4 years). Among the 64 patients whose outcomes were evaluated, 31 (48.4%) had drug-resistant epilepsy, and 21 (32.8%) met our definition of frequent seizures. In the univariate analysis, open lip, larger clefts, and the presence of cortical dysplasia were associated with poor seizure outcomes. Even after adjustment for covariates, open lip clefts were significantly related to drug-resistant epilepsy (odds ratio=13.036, P=0.001) and frequent seizures (odds ratio=7.682, P=0.008).Open lip clefts were associated with poor seizure outcomes. Further, a larger cleft was related to an earlier development of epilepsy. The anatomical features of schizencephaly should be considered in the treatment of epilepsy.

The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia has been reported on previous occasions. We evaluated a sample of adults with hereditary hemorrhagic telangiectasia for the presence of malformations of cortical development, spatial coincidence of malformations of cortical development and AVMs, and the coincidence of brain and pulmonary AVMs.A total of 141 patients 18 years of age or older who were referred to the Augusta University hereditary hemorrhagic telangiectasia clinic and underwent brain MR imaging between January 19, 2018, and December 3, 2020, were identified. MR imaging examinations were reviewed retrospectively by 2 experienced neuroradiologists, and the presence of malformations of cortical development and AVMs was confirmed by consensus. Demographic and clinical information was collected for each case, including age, sex, hereditary hemorrhagic telangiectasia status by the Curacao Criteria, mutation type, presence of malformations of cortical development, presence of brain AVMs, presence of pulmonary AVMs, and a history of seizures or learning disabilities.Five of 141 (3.5%) patients with hereditary hemorrhagic telangiectasia had malformations of cortical development. Two of the 5 patients with polymicrogyria also had closed-lip schizencephaly. One of the patients had a porencephalic cavity partially lined with heterotopic GM. The incidence of spatially coincident polymicrogyria and brain AVMs was 40% (2/5 cases). Of the patients with hereditary hemorrhagic telangiectasia and malformations of cortical development, 4/5 (80%) had pulmonary AVMs and 2/5 (40%) had brain AVMs.To our knowledge, we are the first group to report the presence of schizencephaly in patients with hereditary hemorrhagic telangiectasia. The presence of schizencephaly and porencephaly lends support to the hypothesis of regional in utero cerebral hypoxic events as the etiology of malformations of cortical development in hereditary hemorrhagic telangiectasia.

Schizencephaly is one of the rare cortical malformations that classify in the group of neurological migration defects. The appearance of the anomaly is in the form of a cleft that passes through the brain parenchyma. In mild types, the cleft does not reach the lateral ventricle. Demonstrating the presence of polymicrogyria, optimal evaluation of the cortex and determining the cleft trace are essential in the radiological evaluation of schizencephaly. Because differential diagnosis should be made with heterotopias and focal cortical dysplasia. We present a case of a 21-yearold female patient with closed-lip schizencephaly accompanied by MRI findings. Polymicrogyria is best detected in sagittal T2 sequences, while the difference of white matter and grey matter are well observed in T1 and FLAIR sequences. The benefit of diffusion-weighted images in schizencephaly is unclear. The ADC values of the grey matter adjacent to the cleft are close to the lower limit of normal. Susceptibility weighted image (SWI) sequence has no place in the evaluation of schizencephaly. It can be beneficial for the exclusion of vascular malformations, haemorrhage and differential diagnosis.

Background Walker-Warburg syndrome (WWS), an autosomal recessive disease, is the most severe phenotype of congenital muscular dystrophies. Its diagnosis remains primarily clinical and radiological. Identification of its causative variants will assist genetic counseling. We aim to describe genetic and neuroimaging findings of WWS and investigate the correlation between them. Methods We retrospectively reviewed the clinical, genetic and neuroimaging findings of eleven Saudi neonates diagnosed with WWS between April 2012 and December 2018 in a single tertiary care center. Correlation between neuroimaging and genetic findings was investigated. Results All patients had macrocephaly except one who had intrauterine growth restriction. Dysmorphic features were identified in nearly half of the patients. Creatine kinase levels were available in nine patients and were always elevated. Homozygous pathogenic variants were identified in all patients spanning POMT1 (n = 5), TMEM5 (n = 3), ISPD (n = 2) and POMT2 (n = 1) including one patient who had a dual molecular diagnosis of ISPD and PGAP2. On neuroimaging, all patients showed cobblestone cortex, classical infratentorial findings, and hydrocephalus. Other cerebral cortical malformations included subependymal heterotopia, polymicrogyria and open-lip schizencephaly in four, two and one patients, respectively. Buphthalmos and microphthalmia were the most prevalent orbital findings and found in all patients either unilaterally or bilaterally. Conclusion WWS is a genetically heterogeneous disorder among Saudis. The case with an additional PGAP2-related phenotype exemplifies the increased risk of dual autosomal recessive disorders in consanguineous populations. MRI is excellent in demonstrating spectrum of WWS brain and orbital malformations; however, no definite correlation could be found between the MRI findings and the genetic variant.

Holoprosencephaly, though rare remains the most common forebrain abnormality in humans. This is a report of a patient with multiple craniofacial congenital abnormalities comprising of alobar holoprosencephaly, schicencephaly, encephalocoele and cleft palate. We believe that this report will raise high index of suspicion of physicians who care for children with craniofacial and cerebral congenital abnormalities.

Malformations of cortical development (MCD) are a heterogeneous group of disorders characterized by abnormal structure of the cerebral cortex. MCDs are an important cause of development delay and intractable epilepsy in children. In this review, we explore the embryological stages of development of neo-cortex, the imageology of various malformations which may occur during the journey of this development, the recent advances in imaging techniques used for diagnosing these malformations, and finally a simplified radiological approach to malformations of cortical development. We discuss the classification of MCD according to the embryologic stage of cerebral cortex at which the abnormality occurred and the unique imaging features of various malformations, including microcephaly, hemimegalencephaly, lissencephaly, focal cortical dysplasia, heterotopias, polymicrogyria, schizencephaly, and neonatal CMV infection. Also, a rare variant of hemimegalencephaly, namely posterior quadrantic dysplasia, is illustrated; the diagnosis of which is crucial for neurosurgeons to decide management. The technological advancement in the imaging of MCD has taken a leap in the recent years. Imaging now also plays an enormous role in mapping of the abnormalities, delineation of proper surgical boundaries, and quantifying risks of visual, language, and sensorimotor dysfunction. With the introduction of various motor-sparing surgeries and disconnection procedures, proper identification and delineation of these malformations have gained utmost significance. Knowledge of the wide imaging spectrum of MCD, familiarity with recent advances in imaging and an optimal radiological approach is essential for the general radiologist to accurately diagnose and prognosticate MCD as well as provide the best surgical approach to the operating surgeon.

Schizencephaly is a disorder of neuronal migration which has been hypothesized to arise from vascular ischemic lesion during the early phase of neuroembryogenesis. We describe a case of a premature boy born at 23 weeks of gestation with neonatal stroke. On the first day of life cranial ultrasonography detected a grade II intraventricular hemorrhage and on day 12 periventricular venous infarction. At the postconceptional age of 40 weeks, magnetic resonance imaging revealed a gray matter–lined cleft, suggesting schizencephaly. We have evidence of the pathogenesis of schizencephaly following vascular ischemic stroke early in neurodevelopment before neuronal migration is completed.

Background Schizencephaly is a rare congenital central nervous system malformation characterized by linear, thickened clefts of the cerebral mantle. Recently, germline mutations in collagen type IV alpha 1 (COL4A1) have been reported to be a genetic cause of schizencephaly as a result of prenatal stroke. Patients with COL4A1 mutation demonstrate a variety of disease phenotypes. However, little is known about the potential complications of patients with COL4A1 mutations before and after neurologic surgery. Case Description A 9-month-old boy with schizencephaly and a congenital cataract underwent a ventriculoperitoneal shunt for progressive hydrocephalus. Postoperatively, he developed malignant hyperthermia and cerebral venous thrombosis. Early treatment with dantrolene sodium and hydration was effective. Genetic testing revealed a germline COL4A1 mutation. Conclusions To our knowledge, malignant hyperthermia and cerebral venous thrombosis have not been reported in the literature in patients with COL4A1 mutations after surgery. Schizencephaly arising from COL4A1 mutations might be a disease prone to these adverse effects because this mutation is known to be associated with venous tortuosity, venous vulnerability, and muscle spasms due to basement membrane protein abnormalities. We need to better understand the wide spectrum of clinical phenotypes of COL4A1 mutations and potential complications in order to better manage surgery of patients with schizencephaly.

Aim The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1-mutated patients typically shows vascular abnormalities and white matter lesions. Cortical malformations (specifically schizencephaly) have also recently been described in these patients, suggesting that these, too, could be part of the phenotypic spectrum of COL4A1 mutations. The aim of our work was to retrospectively evaluate COL4A1-mutated subjects diagnosed at our centers in order to assess the frequency and define the type of cortical malformations encountered in these individuals. Method We retrospectively reviewed MRI data of 18 carriers of COL4A1 mutations diagnosed in our centers between 2010 and 2016. Results We identified polymicrogyria in two patients, and schizencephaly in the mother of a further patient. Interpretation Our findings confirm that cortical malformations should be considered to fall within the phenotypic spectrum of COL4A1 mutations and show that not only schizencephaly but also polymicrogyria can also be found in mutated individuals. Although further studies are needed to clarify the underlying pathogenetic mechanism, independently of this, the timing of the brain damage could be the crucial factor determining the type of lesion.

Background The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans. Herein, we report three cases of COL4A1 mutations with porencephaly from gestation to five years of age or longer, and describe their clinical and brain imaging findings. Case reports: We retrospectively reviewed the clinical symptoms and radiological findings, including brain magnetic resonance imaging (MRI) and computed tomography (CT), in three female patients with COL4A1 mutations. Their mutations were c.4843G>A (p.Glu1615Lys), c.1835G>A (p.Gly612Asp), and c.3556+1G>T respectively. All the three cases represented porencephaly in the fetal period; severe hemolytic anemia in the neonatal period; and drug-resistant epilepsy, global developmental delay, and spastic quadriplegia in their childhood. Results Brain MRI and CT showed progressive white matter atrophy from gestation to five-year follow-up or later. Minor cerebral hemorrhage without symptoms occasionally occurred in one patient. Despite brain changes, the clinical picture was stable during early childhood. Conclusions COL4A1 mutations may cause progressive cerebral atrophy beyond early childhood.

Highlights • Intermittent photic stimulation can produce focal onset epileptic seizures, including temporal seizures. • Schizencephaly can be the lesional source of a photosensitive focal onset epilepsy. • Photosensitive temporal lobe epilepsies are rare but established in the scienfitic literature., Photic stimulation is a common trigger for generalized epilepsies but may rarely incite focal seizures. Aside from documented cases of photosensitive occipital lobe epilepsies, few reported instances exist of focal epilepsies being triggered by intermittent photic stimulation. The case of a 12 year-old male with known schizencephaly, pachygyria, and right temporal lobe epilepsy triggered by photic stimulation is reported. To our knowledge, this is only the eighth reported case of photosensitive temporal lobe epilepsy.

Purpose In this paper, I will report the range of appearances of schizencephaly in children and fetuses by reviewing a 10-year experience from a single centre and detail classification systems for the different forms of schizencephaly. This will lead to re-assessment of possible aetiological and mechanistic causes of schizencephaly. Methods All cases of pediatric and fetal schizencephaly were located on the local database between 2007 and 2016 inclusive. The studies were reviewed for the presence, location and type of schizencephaly, as well as the state of the (cavum) septum pellucidum, the location of the fornices and the presence of other brain abnormalities. Results The review included 21 children and 11 fetuses with schizencephaly. Schizencephaly (type 1) was found in 9% of children but no fetuses, schizencephaly (type 2) was present in 67% of the pediatric cases and in 45% of fetuses, whilst schizencephaly (type 3) was present in approximately 24% of children and 55% of fetuses. Other brain abnormalities were found in 67% of children and 55% of fetuses. Conclusion I have proposed a new system for classifying schizencephaly that takes into account all definitions of the abnormality in the literature. Using that approach, I have described the appearances and associations of pediatric and fetal cases of schizencephaly from a single centre. Review of the current literature appears to favour an acquired destructive aetiology for most cases of schizencephaly, and I have proposed a mechanism to explain the cortical formation abnormalities found consistently in and around areas of schizencephaly.

Objectives. Although schizencephaly belongs to the class of neurodevelopmental disorders, which are a well-known predisposing factor for psychosis, there is a lack of relevant studies and diagnostic guidelines on this relationship. Method. A case report of first-episode psychosis with persistent negative symptoms associated with schizencephaly is described and compared with 7 other cases found in the literature. Results. We found perinatal pathology, cognitive deficit, and EEG abnormality in a patient with atypical initial symptoms of psychosis such as olfactory hallucinations. Abnormal EEG findings (left frontal spikes and frontal intermittent rhythmic delta activity) called for magnetic resonance imaging, which revealed left parieto-occipital closed-lip schizencephaly. The patient exhibited a partial response to low-dose amisulpride treatment. Conclusion. We conclude that schizencephaly in our patient was at first asymptomatic and later developed into clinically manifest schizophrenia-like disorder. Both magnetic resonance imaging and EEG were essential tools for establishing this diagnosis.

Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study. The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI). Included patients had coronal (≤3 mm), axial (≤4 mm), and sagittal (≤4 mm) imaging reviewed by two staff neuroradiologists by consensus. Both olfactory sulcus and bulb-tract hypoplasia were ascribed a grade of 0 (normal) to 3 (complete hypoplasia). Other associated congenital anomalies were recorded, if present. Incidence of anomalies were compared to age-matched and gender-matched control patients. Out of 41 septo-optic dysplasia patients 33 were included (mean age = 120.7 months), with 8 excluded due to isolated septum pellucidum absence (n = 5), isolated bilateral optic hypoplasia (n = 2), or inadequate imaging (n = 1). An olfactory sulcus was hypoplastic on one or both sides in 14/33 (42.4%). Olfactory bulb hypoplasia was noted in one or both tracts in 15/33 (45.4%). A significant correlation was found between degree of olfactory sulcal and bulb-tract hypoplasia (ρ = 0.528, p = 0.0009). Other anomalies were: anterior falx dysplasia (n = 16, 48.5%), incomplete hippocampal inversion (n = 14, 42.4%), polymicrogyria (n = 11, 33.3%), callosal complete or partial agenesis (n = 10, 30.3%), schizencephaly (n = 8, 24.2%), ectopic posterior pituitary (n = 6, 18.2%), and nodular heterotopia (n = 4, 12.1%). Of the age-matched control patients 10/33 (30.3%) had at least mild anterior falx hypoplasia, and 1 control patient was noted to have unilateral incomplete hippocampal inversion (IHI); none of the age-matched control patients had olfactory sulcus or bulb-tract hypoplasia. Olfactory sulcus and bulb-tract hypoplasia are fairly common in septo-optic dysplasia and can be discordant between sides. Of the other associated anomalies, anterior falx dysplasia seems to be the most common.

Objective We aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG-related drug-resistant epilepsy. Methods We retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy. Results Mean age at SEEG or surgery was 28.3 years (range, 2-50). PMG was bilateral in 9 (16%) patients and unilateral in 49, including 17 (29%) unilobar, 12 (21%) multilobar, 15 (26%) perisylvian, and only 5 (9%) hemispheric. Twenty-eight (48%) patients additionally had schizencephaly, heterotopia, or focal cortical dysplasia. The SEEG-determined EZ was fully concordant with the PMG in only 8 (16%) cases, partially concordant in 74%, and discordant in 10%. The EZ included remote cortical areas in 21 (43%) cases and was primarily localized in those in 5 (10%), all related to the mesial temporal structures. All but 1 PMG patient with corticectomy or hemispherotomy had a unilateral PMG. At last follow-up (mean, 4.6 years; range, 1-16), 28 (72%) patients remained seizure free. Shorter epilepsy duration to surgery was an independent predictor of seizure freedom. Interpretation PMG-related drug-resistant epilepsy warrants a comprehensive presurgical evaluation, including SEEG investigations in most cases, given that the EZ may only partially overlap with the PMG or include solely remote cortical areas. Seizure freedom is feasible in a large proportion of patients. PMG extent should not deter from exploring the possibility of epilepsy surgery. Our data support the early consideration of epilepsy surgery in this patient group. Ann Neurol 2017;82:781-794.

We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias. All individuals had optic nerve hypoplasia, 11 (65%) had endocrinologic deficits, and 13 (76%) had abnormal cerebral midlines. Seven individuals (41%) had all 3 features. Neurodevelopmental outcome was abnormal in 13 (78%), ranging from mild to severe developmental delay. Individuals with SOD-plus did not have more severe neurologic deficits than individuals with classic or SOD-like subgroups. Thus, SOD is clinically and radiologically heterogeneous, and cortical abnormalities are very common. Neurodevelopmental deficits are very prevalent, and of wide-ranging severity.

Background and purpose MR-guided laser interstitial thermal therapy (MRgLITT) is an increasingly popular neuroablative method for the surgical treatment of epilepsy patients. This article intends to demonstrate the utility and pitfalls of imaging in the context of patient care with MRgLITT. Material and methods A retrospective review of the medical records and imaging database with six illustrative cases selected to demonstrate the use of imaging throughout patient management with MRgLITT in diverse clinical situations and pathologies. A review of the knowledge in the literature was applied to the relevant points discussed. Results Imaging findings were described in the setting of laser therapy in nonlesional epilepsy, mesial temporal sclerosis, dual pathology, periventricular nodular heterotopia, and schizencephaly. Discussion of imaging principles, potential pitfalls, as well as its use in the patient work-up and follow-up, is shown. Conclusions MRgLITT is an alternative minimally invasive therapy for refractory epilepsy, which is becoming widely sought for. Imaging plays a crucial role prior to, during, and after the procedure.

Background Eating epilepsy (EE) is a rare form of reflex epilepsy in which seizures are induced by eating. It is known that most patients with eating seizures, in fact, suffer from symptomatic temporal lobe epilepsy (TLE), whereas only a few patients with epileptic spasms induced by eating (E-ES) have been reported. Patient Description The patient was an 8-year-old girl whose magnetic resonance imaging (MRI) of the head detected dysgenesis of the corpus callosum, cerebellar hypogenesis, marked cerebral asymmetry, broad polymicrogyria, periventricular heterotopia, and closed lip-type schizencephaly. She experienced E-ES as the second form of recurrent seizures after the first recurrence of spontaneous ES. After E-ES occurred, the EEG findings in the right hemisphere, predominantly over the right centrotemporal region, were clearly exacerbated, although the interictal EEG originally showed left-side–dominant asymmetric hypsarrhythmia. The ictal EEG of the E-ES showed diffuse large triphasic (negative-positive-negative) potentials, predominantly over the right centrotemporoparietal region. Conclusions This is a unique case because the E-ES were recurrent ES, although the previous ES were spontaneous, which may provide insight into the mechanism of E-ES.

Falcine sinus is a normal midline embryonic venous sinus present in the fetal brain and usually disappears by birth. Persistent falcine sinus (PFS) has been reported as a normal variant or along with vein of Galen (VOG) malformation, encephalocele, and other abnormalities. Schizencephaly, either closed or open type, has been reported with other associated vascular anomalies. We report a 22-month-old child, who presented with delayed milestones and referred for magnetic resonance (MR) imaging, and the child was found to have PFS with associated bilateral temporo-occipital closed-lip schizencephaly, hippocampal abnormalities, falco-tentorial dehiscence, and white matter abnormalities. The vein of Galen and straight sinus were absent, and the internal cerebral veins were seen draining into superior sagittal sinus via the falcine sinus. These set of abnormalities are unique from abnormalities reported previously in association with the falcine sinus.

Dominant negative or haploinsufficient mutations in the collagen genes COL4A1 and COL4A2 are characterized by arterial basement membrane thickening resulting in a multisystem microangiopathy targeting the CNS but also potentially affecting the ocular, renal, cardiac, and muscular systems. Within the brain, such changes predispose affected individuals to recurrent ischemic and/or hemorrhagic strokes beginning during early fetal development but extending into the postnatal period and even into adulthood.1 Mutations affecting glycine residues of the Gly-Xaa-Yaw (typically representing glycine-proline-4-trans-hydroxyproline in vertebrates) repeat domains that typify collagens usually manifest in an autosomal dominant (AD) fashion. However, recent work suggests that tissue-specific mutation effects may also occur, with mutations leading to gain of function effects in some tissues and loss of function effects in others.2 Stroke-related complications may be insidious and clinically silent. Neuroimaging phenotypes of COL4A-associated disease include chronic white matter disease, porencephaly/hydranencephaly, encephalomalacia, cerebral calcifications, schizencephaly and hydrocephalus and corresponding clinical diagnoses of cerebral palsy, intellectual disability, cortical visual impairment, and epilepsy.3 The authors thank the patients and their family members for their support of this work.

Parietal atretic cephalocele (AC) and its associated intracranial venous anomalies, such as vertical embryonic positioning of the straight sinus (VEP of SS), have, in previous reports, been exclusively restricted to the midline. We report a patient with lateralized parietal AC on the right side. The AC was in the shape of a tadpole, with a large head and a long tail, extending to the proximity of the right external canthus, where a lacrimal gland fistula was observed. The superior sagittal sinus and VEP of SS were also displaced to the right side, although the sagittal suture was located at the midline. Schizencephalic clefts in the right posterior cortex were also observed. The parietal AC, which was initially located in the midline, could conceivably have been displaced to the right side by other developmental processes. However, the relationship between lateralized AC and associated multiple anomalies on the ipsilateral side is difficult to explain monogenetically. Our case study indicates that AC might have a broader spectrum of clinical symptoms than was once thought to be the case.

Schizencephaly associated with extensive malformation of cortical developments frequently cause medically intractable epilepsy in pediatric patients. Because of the extent of the structural abnormality, which is often bihemispheric and multifocal, epileptic surgery in these group of patients is typically not considered or indicated. We report a 10-year-old boy with medically intractable epilepsy and multifocal epileptiform discharges associated with bilateral malformation of cortical developments, schizencephaly, and agenesis of the corpus callosum, initially thought to be not a candidate for epilepsy surgery. All of the seizures localized to the right posterior head region. Seizure freedom was achieved after a right temporoparietooccipital (TPO) disconnection. He was followed postoperatively for 22 months at which time he remained on oxcarbazepine monotherapy. We emphasize that medically intractable epileptic patients with unilateral schizencephaly, bilateral colpocephaly, and multifocal epileptiform discharges must be evaluated with a video electroencephalography (VEEG) to characterize the seizures before ruling out epilepsy surgery as a therapeutic option. TPO disconnection surgery, instead of multilobar resections, can result in favorable seizure outcome in patients with localized seizure onset in the posterior head region.

Schizencephaly is a rare malformation of cortical development resulting from cell migration defects that occur unilaterally or bilaterally. The type of the schizencephalic cleft can be open lip or closed lip. Patients suffering from refractory seizures secondary to schizencephaly should be considered for surgical treatment. In this paper, we retrospectively analyzed two patients with confirmed schizencephaly and intractable seizures. The evaluation methods included a medical history assessment, a neurological examination and magnetic resonance imaging (MRI). Continuous intracranial video-electroencephalogram (vEEG) monitoring with surface electrodes and deep electrodes was evaluated to confirm the epileptogenic zones associated with the schizencephalic lesions. Cortical electrical stimulation was performed to evaluate the neurophysiology of the relevant brain regions. Epileptic focus resection was performed close to the schizencephalic cleft according to the results of intracranial EEG and stimulation while preserving neurological functions. MRI revealed bilateral open lip schizencephaly in one patient and closed lip schizencephaly in the other patient. The epileptogenic zones were localized close to the schizencephalic clefts. The seizure outcome was Engel's class Ia in both patients at 1-year follow-up. No significant neurological deficits were found, and their activities of daily life were significantly improved. We conclude that abnormal cortex near the schizencephalic clefts may display an extrinsic epileptogenicity. Accurate localization of the epileptogenic zones using intracranial EEG and electrical stimulation can lead to a seizure-free outcome in patients with refractory epilepsy associated with schizencephaly.

Objective We analyzed the electroclinical features, etiology, treatment, and outcome of 12 patients with West syndrome (WS) associated with focal hypsarrhythmia (FH). Methods Between February 2005 and July 2013, 12 patients met the electroclinical diagnostic criteria of WS associated with FH. Hypsarrhythmia was considered to be focal when two or three brain lobes were involved. Patients with hemihypsarrhythmia were excluded. Results All patients had epileptic spasms (ES) in clusters of a structural etiology. Four had a porencephalic cyst, two had focal cortical dysplasia, two had open-lip schizencephaly, and one each had unilateral polymicrogyria, shunted hydrocephalus, glioma, and cerebral hemiatrophy. Age at ES onset was between 2 and 8 months, with a mean age of 5 and a median age of 6 months. Seven patients had asymmetric ES, three had symmetric ES, and two patients had unilateral ES. FH was seen over the posterior regions in nine and over the anterior regions in three. Ictal EEG recordings showed diffuse high-amplitude slow waves in six patients, diffuse slow waves followed by voltage attenuation in three, and diffuse fast rhythms in three others. In three patients the ictal paroxysms were unilateral. Six patients responded well to surgery. Conclusion ES associated with FH are secondary to structural lesions. Surgery should be considered earlier in the management of this group of patients.

Classically described by Yakovlev and Wadsworth1 in 1946, schizencephaly is a rare congenital brain malformation characterized by clefts of the cerebral mantle extending from the pial surface to lateral ventricles lined by heterotopic gray matter. Observed associations between schizencephaly and in utero infections, trauma, fetal exposure to teratogens, and death of a monozygotic twin support the hypothesis that schizencephaly is the consequence of fetal vascular disruption during the late first or early secondary trimester of pregnancy.2

Background Schizencephaly is a rare defect which is identified as clefts that are lined with grey matter extending from the ependyma of the cerebral ventricles to the pia mater. An encephalocele occurs due to failure of neural tube closure resulting in a gap through which cerebrospinal fluid and meninges can bulge into a pouch. There have been rare instances when these two defects have presented simultaneously. Case description We report a case of a 17-year-old child who was brought by his parents with complaint of swelling over his nose and forehead and aggressive behavior since birth. Magnetic resonance imaging findings were consistent with frontoethmoidal meningoencephalocele with schizencephaly. Lumbar drain was inserted and kept in place for 1 week followed by surgical correction of the defect. Our case is interesting because of delayed presentation as it is a rare entity and its association with schizencephaly. Conclusion Encephalocele association with schizencephaly is rare.

Malformations of cortical development (MCD) are lesions produced by insult to the developing neocortex. MCD are frequently associated with refractory epilepsy. Clinical and electrophysiologic findings of MCD are variable. Our aims in this study are to identify cases of MCD in patients having epilepsy, to study the semiology of seizure, to look for associated risk factors and to correlate the semiology of seizure with the electroencephalographic (EEG) and magnetic resonance imaging (MRI) findings. We studied 54 patients with MCD (from January 2011 till October 2012). Detailed medical and family histories were obtained in addition to neurological examinations and routine EEG evaluations. There were 29 (53.7%) males and 25 (46.3%) females, with ages ranging from 5 mo to 43 yr. The focal cortical dysplasias cases were sixteen (29.6%), schizencephaly eight (14.8%), polymicrogyria eight (14.8%), dysembryoblastic neuroepithelial tumor six (11.1%), lissencephaly five (9.3%), ganglioglioma three (5.6%), heterotopias three (5.6%), hemimegalencephaly two (3.7%), cortical hamartomas of tuberous sclerosis two (3.7%) and mixed lesion in one (1.8%). Overall, 40 (74.1%) cases had partial seizures. The EEG revealed interictal epileptiform discharges in 27 (50.0%) with the rest being normal. The commonest type of MCD was the focal cortical dysplasia. Most (74.1%) cases had focal seizures. There was poor correlation between semiology of seizure with the EEG and MRI findings. There was no history of any antenatal maternal infection or drug exposure. No risk factor except for positive family history was identified.

Schizencephaly is an uncommon structural disorder of cerebral cortical development. There are few comparative studies evaluating epilepsy in that condition. The aim of this study is to analyze which factors are associated with the development of epilepsy in patients with schizencephaly. The study is a longitudinal, observational and comparative retrospective study of 35 pediatric patients with schizencephaly. The patients were divided into two groups: a group of 10 children who developed epilepsy and another group of 25 who had no clinical epileptic manifestations. Both groups were followed up and the data collected to analyze potential risk factors included demographic and prenatal data (prenatal event, family history of epilepsy), radiological features (location of the cleft, unilateral or bilateral, extent of the lesion, number of impaired lobes, open-lip or closed-lip types, presence of associated anomalies), and neurological and electroencephalographic data. No significant difference was found in the association between epilepsy and any of the examined factors (P > 0.05). Neither the features of the lesion (cleft size location, type of lip, number of impaired lobes, associated anomalies), nor electroencephalography abnormalities, nor the family history of epilepsy or prenatal events could predict the occurrence of epilepsy in patients with schizencephaly.

Background Schizencephaly is an uncommon congenital disorder of cerebral cortical development. The defect is characterized by the presence of a cleft in the brain extending from the surface of the pia mater to the cerebral ventricles. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, maternal trauma, or EMX2 mutations. Method In the present paper, the authors described difficulties in employing diagnostic imaging in differentiating between type II (open-lip) schizencephaly and much more common intracranial fluid spaces of a different origin (arachnoid cysts and hydrocephalus). Result In all the three cases, the treatment consisted in implantation of a shunt system; nevertheless, it should be emphasized that a surgical intervention in the third presented case (type II schizencephaly) aimed at relieving the symptoms of intracranial hypertension—a directly life-threatening condition—since shunting is not a method of treating schizencephaly itself. Conclusions Although proper interpretation of the character of intracranial fluid spaces is of significance for further therapeutic management, yet, the key decision as to the surgical intervention is made based on clinical presentation, predominantly on symptoms of intracranial hypertension.

Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited.We conducted a literature review and extracted data from the case reports. Of 199 articles retrieved, 156 articles (734 patients) met our inclusion criteria.Patient characteristics included microcephaly (41.5% of patients), seizures (74.1%), bilateral cleft (41.4%), open lip (61.3%), septo-optic dysplasia (69.1%), and ventricular dilation (60.5%). The majority of clefts were in the frontal and parietal lobes. When these potential association factors were assessed by univariate logistic regression microcephaly (OR = 21.75, P0.001), corpus callosum agenesis (OR = 9, P0.001), motor impairments (OR = 6.21, P0.001), and bilateral clefts (OR = 6.31, P0.001) seems to have the strongest association, but also age at diagnosis10 years (OR = 1.05, P0.001), right (OR = 1.85, P = 0.001) or left (OR = 2.71, P0.001) side clefts and septum pellucidum (OR = 3.7, P = 0.002) agenesis were associated with neurocognitive dysfunctions.We describe novel findings with practical implications for predicting neurocognitive outcomes in patients with schizencephaly. Most patients had neurological impairments including motor (90.0%) or cognitive (77.5%) dysfunctions. Bilateral clefts, motor impairment, microcephaly, and corpus callosum agenesis were strongly associated with neurocognitive impairment. A lack of large cohorts of patients with schizencephaly prevented comparison of our results; most previous studies are case reports or small case series.

Neuroimaging studies demonstrate that not only the lesions of malformations of cortical development (MCD) but also the normal-appearing parenchyma (NAP) present metabolic impairments, as revealed with (1)H-MRS. We have previously detected biochemical disturbances in MCD lesions with phosphorus-31 magnetic resonance spectroscopy (31P-MRS). Our hypothesis is that pH abnormalities extend beyond the visible lesions.Three-dimensional 31P-MRS at 3.0 T was performed in 37 patients with epilepsy and MCD, and in 31 matched-control subjects. The patients were assigned into three main MCD subgroups: cortical dysplasia (n=10); heterotopia (n=14); schizencephaly/polymicrogyria (n=13). Voxels (12.5 cm3) were selected in five homologous regions containing NAP: right putamen; left putamen; frontoparietal parasagittal cortex; right centrum semiovale; and left centrum semiovale. Robust methods of quantification were applied, and the intracellular pH was calculated with the chemical shifts of inorganic phosphate (Pi) relative to phosphocreatine (PCr).In comparison to controls and considering a Bonferroni adjusted p-value0.01, MCD patients presented significant reduction in intracellular pH in the frontoparietal parasagittal cortex (6.985±0.022), right centrum semiovale (7.004±0.029), and left centrum semiovale (6.995±0.030), compared to controls (mean values±standard deviations of 7.087±0.048, 7.096±0.042, 7.088±0.045, respectively). Dunnet and Dunn tests demonstrated that the differences in pH values remained statistically significant in all MCD subgroups. No significant differences were found for the putamina.The present study demonstrates widespread acidosis in the NAP, and reinforces the idea that MCD visible lesions are only the tip of the iceberg.

Although many schizencephaly patients suffer from epilepsy, the relationship between schizencephalic lesions and epileptic foci remains unclear. Previous studies have shown that schizencephalic lesions may be associated with, rather than contain, epileptogenic zones. Thus, the purpose of this study was to investigate the current source distribution (CSD) of epileptiform discharges in schizencephalic patients and to correlate this activity with existing structural lesions. A consecutive series of 30 schizencephalic patients who were diagnosed using brain magnetic resonance imaging (MRI) were selected retrospectively and prospectively. Of the original 30 subjects selected, 13 had epilepsy, and 6 of these patients exhibited schizencephaly, epilepsy, and interictal spikes on electroencephalograms (EEG) and were enrolled in the present study investigating the current source analysis of interictal spikes. The CSDs of the initial rising phases and the peak points of the interictal spikes were obtained using standardized low-resolution brain electromagnetic tomography (LORETA). Five patients exhibited a single focus of interictal spikes, while 1 patient showed 2 foci. Relative to the structural brain lesions, 5 patients displayed extrinsically localized CSDs, while 1 patient showed a partially intrinsically localized CSD. The present findings demonstrate that the CSDs of interictal spikes in schizencephalic patients are in general anatomically distinct from the cerebral schizencephalic lesions and that these lesions may display an extrinsic epileptogenicity.

Schizencephaly is an uncommon disorder of cell migration characterized by communication clefts between ventricular system and subarachnoid space. The clefts may be unilateral or bilateral and may be closed or separated. Patients with bilateral clefts typically present with severe mental deficits, motor anomalies and seizures. We report a 16-year-old girl whose cranial magnetic resonance imaging revealed bilateral open-lip schizencephaly, but with an atypical clinical course. She had minimally recognizable neurological deficits and epilepsy for last one year. Such mild clinical phenotypes were not proportional to the magnetic resonance imaging of the cerebral malformation.

Neurofibromatosis 1, an autosomal dominant neurocutaneous disorder characterized by cafe-au-lait macules, Lisch nodules, neurofibromas, and learning disabilities, affects approximately 1 in 3000 people. Unlike other neurocutaneous disorders such as tuberous sclerosis, epilepsy is not a common clinical feature, occurring in 3.8–7% of NF1 patients. Rarely, case reports have described patients with NF1 and epilepsy due to malformations of cortical development. The types of malformations have included hemimegalencephaly, cerebellar leptomeningeal heterotopias, transmantle cortical dysplasia, periventricular band of heterotopic gray matter, pachygyria, occipital encephalocele, and unilateral as well as bilateral polymicrogyria. We report an additional case of epilepsy in a Neurofibromatosis 1 patient with heterotopic gray matter and closed-lip schizencephaly.

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures ( P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures.

Schizencephaly is a rare malformation of cortical development characterized by congenital clefts extending from the pial surface to the lateral ventricle that are lined by heterotopic gray matter. The clinical presentation is variable and can include motor or cognitive impairment and epilepsy. The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, or maternal trauma. Reported genetic causes include chromosomal aneuploidy, EMX2 mutations, and possible autosomal recessive familial cases based on recurrence in siblings. In an effort to identify risk factors for schizencephaly, we conducted a survey of 48 parents or primary caretakers of patients with schizencephaly born between 1983 and 2004. We discovered that young maternal age, lack of prenatal care, and alcohol use were all significantly associated with risk of schizencephaly. Our results suggest that there are important nongenetic, intrauterine events that predispose to schizencephaly.

The epileptic characteristics and their differences in patients with porencephaly and schizencephaly were, respectively, evaluated. Eleven patients with porencephaly and eight patients with schizencephaly were retrospectively enrolled in this study. Five of the six patients with extensive porencephaly and all five patients with open-lip schizencephaly had been suffering from various types of epileptic seizures. Three patients with extensive porencephaly and all five patients with open-lip schizencephaly had presented with early onset seizures before 9 months of age. Two patients with extensive porencephaly and three patients with open-lip schizencephaly had presented with West syndrome. These two groups of patients with epileptic seizures showed generalized epilepsy or generalized epilepsy with unilateral dominancy at the onset, and then developed localization-related epilepsy or unilateral seizures with increasing age. The epileptic paroxysms showed multifocal independent spikes, which were not always localized in the defect or cleft sites at the last examination. Polytherapy or synergistic combinations were eventually introduced for these intractable seizures in both groups for patients without any evidence of efficacy. In the porencephaly patients, four of five patients achieved good seizure control with appropriate monotherapy or two-drug therapy including valproate. All five patients with schizencephaly had been treated by polytherapy, and three of them had persistent intractable seizures in spite of trying rational monotherapy or two-drug therapy. The epileptic intractability associated with open-lip schizencephaly might be related to the epileptogenesis of these extensive and widespread defective lesions, which were commonly associated with cortical dysplasia. A trial of rational monotherapy or two-drug therapy may be effective, rather than larger-number polytherapy in many cases, more in porencephaly than schizencephaly.

Background Functional hemispherectomy is a wellestablished method in childhood epilepsy surgery with only a few reports on its application in adults. Methods We report on 27 patients (median age 30 years, range 19-55) with a follow-up of more than 1 year (median 124 months, range 13-234). Etiology was developmental in two (one schizencephaly, one hemimegalencephaly), acquired in 21 (two hemiatrophy, 17 porencephaly, two postencephalitic), and progressive in four (Rasmussen’s encephalitis). Results At last available follow-up, 22 patients were seizure free (81 % ILAE class 1), one had auras (4 % ILAE class 2), one had no more than three seizures per year (4 % ILAE class 3). Thirty-seven percent were without antiepileptic drugs. Seventeen patients of 20 responding patients stated improved quality of life after surgery, one patient reported deterioration, and two patients reported no difference. Additionally, a self-rated postoperative functional status and changes compared to the pre-operative status was assessed. Six patients improved in gait, ten remained unchanged, and four deteriorated. Three patients improved in speech, none deteriorated. Hand function got worse five times, and in 15 cases remained unchanged. There was no mortality, one bone flap infection, and one subdural hematoma. Hydrocephalus was seen in three cases (12 %). Conclusions It is possible to achieve good seizure outcome results despite long-standing epilepsy across a variety of etiologies, comparable to epilepsy surgery in pediatric patients. Adult patients do not have to expect more problems with new deficits, appear to cope quite well, and mostly profit from surgery in several quality of life domains.

The cerebral cortex develops in several stages from a pseudostratified epithelium at 5 weeks to an essentially complete cortex at 47 weeks. Cortical connectivity starts with thalamocortical connections in the 3rd trimester only and continues until well after birth. Vascularity adapts to proliferation and connectivity. Malformations of cortical development are classified into disorders of specification, proliferation/apoptosis, migration, and organization. However, all processes are intermingled, as for example a dysplastic cell may migrate incompletely and not connect appropriately. However, this classification is convenient for didactic purposes as long as the complex interactions between the different processes are kept in mind.

Introduction Malformations of cortical development (MCDs) are increasingly recognized as important cause of epilepsy, especially refractory epilepsy. In developing countries like India, where the facilities for sophisticated imaging are not easily accessible to all, the prevalence and the types of cortical malformations are largely unknown. Hence this preliminary study has been undertaken to examine the relation between epilepsy and malformations of cortical development in a resource-limited setting. Aims To study various types of malformations of cortical development (MCDs) associated with epilepsy and to correlate with their clinical semiology. Settings and design The study was conducted in a tertiary care neurological center in south India. Cohort included all patients with epilepsy associated with cortical malformation on neuroimaging. Methods and materials Neuroimaging data of all patients with epilepsy were evaluated for a 5-year period from 1998 to 2003, for the presence of cortical malformations. The case records of those patients with cortical malformations were taken from the medical records department and the clinical and electrophysiological data were analyzed. Results We are reporting 34 cases of MCDs evaluated during the 5-year period. The mean age of the cohort was 15.1 (±12.2) years, with a range from 3 months to 45 years and 52.9% were males. Mean age at seizure onset was 7.2 years (±7.8), with a mean duration of seizure of 8.1 years (±7.7). Delayed motor and mental milestones were present in 15 patients (44.1%) and positive family history of seizure/epilepsy was seen in 9 patients (26.5%). Cortical malformations were most often associated with partial seizures (19/34, 55.9%). The most common type of seizure was complex partial seizure, seen in 12 patients (35.3%). Majority had very frequent, uncontrolled seizures with 16 (47.1%) patients having a seizure frequency of more than one per day. Heterotopias were seen in 14 patients (41.2%), in isolation in 5 (14.7%) patients and in combination with other malformations in 9 (26.5%) patients. Pachygyria was present as an isolated anomaly in five (14.7%) patients and combined with other abnormalities in eight (23.5%) patients. Cortical dysplasia was seen in 5 (14.7%) patients, hemimegalencephaly in two patients, polymicrogyria in two patients, lissencephaly and schizencephaly were seen in one patient each. EEG demonstrated focal epileptiform discharges in 59.1%, while generalized epileptiform discharges were seen in 22.7% of patients. Twenty-seven out of 34 (79.4%) patients had refractory/difficult to treat epilepsy. Conclusions Malformations of cortical development are a heterogenous group of disorders, associated with developmental delay and refractory seizures but seizures usually do not have pathognomonic semiologic features. Possibility of MCDs should be considered during the evaluation of refractory epilepsy cases.

The epidemiology and clinical spectrum of schizencephaly in south-eastern Hungary have been surveyed in a retrospective population-based study. A total of 10 patients (6 boys and 4 girls) were found with schizencephaly among 185 486 live births in a period of 14 years (July 1, 1992 to June 30, 2006), which means a birth prevalence of 0.54 per 10 000 (95% confidence interval [CI]: 0.20-0.87). The schizencephaly was unilateral in 7 cases (with closed lips in 5 and open lips in 2 patients) and bilateral in 3 children (with closed lips in 2 and open lips in 1). The septum pellucidum was absent in 5 cases; however, optic nerve hypoplasia was not found in these patients. Delayed development and intellectual disability were observed in all patients, except 2 with unilateral closed lip schizencephaly. Epilepsy was diagnosed in 3 patients (2 with unilateral and 1 with bilateral schizencephaly).

Introduction– Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. Material and methods– Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. Results– Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients witL demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. Conclusion– We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.

Prefrontal cortex dysfunction has been associated with a series of behavioral symptoms, such as impulsivity and affective instability, which are the defining features of several personality disorders, notably, borderline personality disorder. We report on a 27-year-old patient with schizencephaly in the right frontal lobe (cingulate cortex lesion and secondary orbitofrontal cortex dysfunction) presenting with prominent borderline features and compromise of executive functions, decision-making and attention. We hypothesize that the personality disorder of our patient could be related to cingulate cortex lesion and secondary orbitofrontal cortex dysfunction associated with schizencephaly.