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Schizencephaly is a highly uncommon clinical condition characterized by a diverse range of symptoms stemming from its numerous anatomical manifestations. The disorder is characterized by abnormalities in brain structure resulting from disruptions in neuronal migration. This article presents a case of schizencephaly in an Ethiopian child. The child, displaying delayed walking and speech difficulty since birth, was brought to the pediatric outpatient department for examination. The physical assessment revealed left-sided hemiparesis and an inability to sit without assistance. Subsequent magnetic resonance imaging findings confirmed the presence of open-lip schizencephaly. Therefore, neurorehabilitation, specifically highlighting the crucial importance of early intervention in enhancing cognitive and motor functions was initiated. It is imperative to acknowledge that, while a permanent cure for schizencephaly may not currently exist, neuro-rehabilitation plays a pivotal role in enhancing the overall quality of life for individuals affected by this condition.

Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+.

Background: Acalvaria, or acrania, is a rare congenital cranial vault defect with neurocranium absences, including complete or part of calvaria flat bones, dura mater, and associated muscles, but with a still present in the central nervous system, skull base, facial bones, and skin-covered the defect. It is a sporadic incidence without apparent genetic factors confirmed. Acalvaria is often misdiagnosed as anencephaly; the distinguishable difference is that anencephaly has an absence (partial or complete) of the brain tissue, including the skull and scalp. Acalvaria is considered a fatal anomaly with a low survival rate, and only a few cases of extended survival have been reported until now. To the best of the author's knowledge, no acalvaria case has been published in Papua, and only one reported case of the coexistence of acalvaria with schizencephaly in Brazil (2018). Case report: Herein, we present a case of an indigenous South Papuan living newborn with primary acalvaria and open-lip schizencephaly in a frontoparietal region. A male newborn baby was born from a 39-year-old female Marind-Anim tribe patient with a 38th week of gestation, with no previous history of miscarriage, is not a consanguineous marriage, and had an unremarkable medical history during this pregnancy. Post-natal physical examinations showed an irregularly shaped head with 11.5 cm diameter concave of the right side, with a soft brain-like consistency palpable and the absence of half right frontoparietal calvarium covered with a presence of scalp and hair. Cranial 2-dimension ultrasonography shows an absence of half right frontoparietal calvaria bone with a complete presence of scalp and periosteum covering the defect with a fluid accumulation (anechoic) below the periosteum. A transverse axis view shows a complete structure but hypoplasia of brain cortex with visible slightly dysgenesis of gyrus and sulcus in both hemispheres convincing the acalvaria condition not anencephaly. A fluid accumulation above brain parenchyma of the frontoparietal region happened to be a cerebrospinal fluid coming from a wide-open cleft extending from the left lateral and fourth ventricles to the cerebral cortex, suggesting a typical condition of open-lip schizencephaly. Further health follow-ups until 6 months old showed still normal physical and behavioral development with no sign of complications. Conclusions: No standard acalvaria treatment is being established; conservative and supportive therapy is mostly taken considering their low survival rate. With the advancement of medical technology nowadays, surgical approaches, including scalp defect closure, bone graft, and 3D-printed defect filling, are being performed and have succeeded in a few cases. Long-term follow-up is required to monitor their neuro-psychological development and complication incidences that need further intervention. [ABSTRACT FROM AUTHOR]

This case report presents a 21-year-old male with recurrent seizures attributed to isolated temporal lobe closed-lip schizencephaly coexisting with septo-optic dysplasia. Despite adult-onset seizures, the patient lacked motor deficits, maintaining normal developmental milestones. Comprehensive diagnostic modalities, including MRI revealing temporal lobe atrophy and associated abnormalities, contributed to the unique identification of schizencephaly. The classic triad of septo-optic dysplasia further complicated the clinical spectrum. Financial limitations influenced the predominantly conservative management, highlighting healthcare challenges. This case enhances our understanding of the rare congenital disorder, emphasizing the importance of tailored diagnostics and management strategies for diverse presentations of schizencephaly, particularly in the context of associated congenital anomalies.

The COL4A1 (collagen Type 4 alpha1) pathogenic variant is associated with porencephaly and schizencephaly and accounts for approximately 20% of these patients. This gene variant leads to systemic microvasculopathy, which manifests as brain, ocular, renal, and muscular disorders. However, only a few patients with surgical interventions have been reported and the potential surgical risks are unknown. Here, we present the cases of two female patients between 7 and 8 years of age who were diagnosed with the COL4A1 variant and underwent laparoscopy‐assisted percutaneous endoscopic gastrostomy (LAPEG) for oral dysphagia. Their primary brain lesions were caused by porencephaly and paralysis, which are caused by multiple cerebral hemorrhages and infarctions, and both patients had refractory epileptic complications. Although LAPEG was successfully performed in both patients without any intraoperative complications, one patient developed alveolar hemorrhage postoperatively and required mechanical ventilation. Thus, careful perioperative management of patients with the COL4A1 variant is important. [ABSTRACT FROM AUTHOR]

Schizencephaly, a rare congenital cerebral deformity that affects the cerebral mantle and is caused by both hereditary and acquired factors, is defined by a cleft that spans the entire cerebral hemisphere from the lateral ventricle to the cerebral cortex. Adult symptoms have only been described in a few cases in the literature. Hemiparesis, developmental delays, or seizures are manifestations of the clinical presentation, which is dependent on the size and location of the lesion. Neuroimaging investigations, particularly MRI, enable the diagnosis and rule out other causes. Usually discovered at birth, this entity begins to show up in the first several years. To prevent receiving the wrong treatment, the ailment must be correctly diagnosed. We report the observation of a 43-year-old patient with partial epileptic seizures but with an asymptomatic childhood, in relation to unilateral closed cleft schizencephaly associated with gray matter heterotopia. In this case, we highlight the importance of neuroimaging, in particular MRI on the diagnosis of this entity and to identify the associated anomalies.

Septo-optic dysplasia (SOD) is a rare malformation defined by septum pellucidum abnormalities and hypoplasia of the optic nerves and chiasm. It can be associated with cortical development malformations such as schizencephaly, which is then called septo-optic dysplasia plus. It usually manifests at birth, although it may not be diagnosed until childhood, or rarely, adolescence. We report the case of a 23 years old patient, with a history of epilepsy since early childhood never labeled, which was diagnosed with SOD-PLUS with brain MRI in our department.

Key Clinical Message: To rule out underlying developmental brain defects such as schizencephaly, pediatric seizures necessitate a thorough examination. Adults who receive a diagnosis later in life may face severe management and prognosis difficulties. To avoid underdiagnosis of developing brain abnormalities, imaging should be a part of the workup for pediatric seizures. Imaging is critical to the diagnosis and therapy of such cases. Closed‐lip schizencephaly with the absence of the septum pellucidum is a rare congenital malformation of the brain that can be associated with a variety of neurological conditions. We report the case of a 25‐year‐old male with left hemiparesis who presented with recurrent seizures from childhood, poorly controlled with medications, and increased tremors. He has been taking anticonvulsant for the last 7 years and is under symptomatic management. Magnetic resonance imaging of the brain revealed closed‐lip schizencephaly with absent septum pellucidum. [ABSTRACT FROM AUTHOR]

Schizencephaly, an extremely rare anomaly of the cortex, is characterized by abnormal clefts in the cerebral cortex. Very often, this condition is diagnosed early in the childhood period but few instances exist in literature where schizencephaly‐associated seizures and hemiparesis have presented later in life too. Here, we report a rare case scenario of a lady in her late 30s who initially presented to us with obstetric concerns wherein schizencephaly remained an incidental finding despite the significantly large cortical cleft along with lobar holoprosencephaly and lissencephaly. [ABSTRACT FROM AUTHOR]

Schizencephaly is a congenital cerebral malformation characterized by clefts in the hemispheres of the brain, where variations in semiology often make it difficult to localize epileptogenic focus. Here, we report on a series of patients who underwent stereo-encephalography (SEEG) for epileptogenic focus localization and subsequent SEEG-guided surgical intervention. Four patients (ages 27, 33, 27, 25 years) with a mean seizure history of 16 years (range 8–22 years) were analyzed. Data pertaining to semiology, video encephalography (EEG), magnetic resonance imaging, positron emission tomography, and invasive EEG studies, surgical intervention and post-surgery outcome were collected and analyzed. All seizure onset zones were within the extent of schizencephaly; however, the limbic system (including the hippocampus, amygdala, cingulate gyrus, or insula) was involved in early spreading. Two patients underwent SEEG-guided radiofrequency thermo-ablation (RFTA) in the seizure onset zone, 1 patient underwent lesionectomy via craniotomy, and 1 underwent neither RFTA nor lesionectomy. At 2 years post-surgery, the outcomes were as follows: Engel grade Ia (n = 2), Ib (n = 1), and III (n = 1). This article reports on a precise approach to treating patients with schizencephaly dependent of seizure onset zone and functional cortex mapping. Subsequent SEEG-guided surgical interventions (radiofrequency thermo-ablation and lesionectomy) were shown to reduce seizure frequency, while preserving the neurologic functions in drug-resistant epilepsy patients with schizencephaly. [ABSTRACT FROM AUTHOR]

Abstract Objective 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. Methods 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. Results 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. Significance 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.

Key Clinical Message To rule out underlying developmental brain defects such as schizencephaly, pediatric seizures necessitate a thorough examination. Adults who receive a diagnosis later in life may face severe management and prognosis difficulties. To avoid underdiagnosis of developing brain abnormalities, imaging should be a part of the workup for pediatric seizures. Imaging is critical to the diagnosis and therapy of such cases. Abstract Closed‐lip schizencephaly with the absence of the septum pellucidum is a rare congenital malformation of the brain that can be associated with a variety of neurological conditions. We report the case of a 25‐year‐old male with left hemiparesis who presented with recurrent seizures from childhood, poorly controlled with medications, and increased tremors. He has been taking anticonvulsant for the last 7 years and is under symptomatic management. Magnetic resonance imaging of the brain revealed closed‐lip schizencephaly with absent septum pellucidum.

Abstract Schizencephaly, an extremely rare anomaly of the cortex, is characterized by abnormal clefts in the cerebral cortex. Very often, this condition is diagnosed early in the childhood period but few instances exist in literature where schizencephaly‐associated seizures and hemiparesis have presented later in life too. Here, we report a rare case scenario of a lady in her late 30s who initially presented to us with obstetric concerns wherein schizencephaly remained an incidental finding despite the significantly large cortical cleft along with lobar holoprosencephaly and lissencephaly.

Background: Septo‐optic dysplasia (SOD), once a variable triad of septum pellucidum defects (SPDs), optic nerve hypoplasia (ONH), and hypopituitarism, has had multiple findings added, with uncertain causes, definitions, and limits. Method: Literature review. Results: SOD is a complex vascular sequence with confounders. Conclusions: Proximal anterior cerebral artery trunk disruptions cause overlapping primary effects, giving ONH alone most often, and isolated SPD less. ONH disruptions can spread to pituitary, SPD disruptions to the cerebral cortex, causing schizencephaly and related anomalies. Pituitary defects are rare without ONH, and cortical findings are rare without SPD. Extensions are unidirectional, so isolated pituitary or cortical defects are separate from SOD. Micro‐ an‐ ophthalmia, a suggested ONH variant, is not part of SOD. Disruption by‐products can affect development, causing cognitive and endocrine issues, and structural anomalies such as corpus callosum thinning, ventriculomegaly, and hippocampal and olfactory findings. Limbic extensions may also contribute to the same structural defects as by‐products. Midline CNS developmental anomalies can act as disruptive foci, most likely through vascular variants, but have separate pathogenesis. Relative frequencies of specific pituitary hormone defects change as SOD rates increase. Increasing relative rates of midline CNS developmental defects and cortical anomalies are consistent with rising levels of exogenous exposures sensitizing to midline predispositions. [ABSTRACT FROM AUTHOR]

Background: Schizencephaly and encephaloceles are rare developmental birth defects, with the former involving abnormal clefts in the cerebral hemispheres connected to the ventricular system and the latter involving a neural tube defect characterized by the protrusion of brain tissue through an abnormal skull opening. These conditions are individually uncommon, and their simultaneous occurrence in a single patient is exceedingly unusual., Observations: This case report explores the intersection of these two rare congenital malformations in a 2-month-old female patient from an indigenous community in a rural area of Colombia. She presented with open-lip schizencephaly accompanied by a nasoethmoidal encephalocele and additional brain abnormalities, including septum pellucidum agenesis, corpus callosum dysgenesis, and a suspected bilateral optic nerve hypoplasia., Lessons: Management involved a two-step surgical procedure, addressing hydrocephalus with a ventriculoperitoneal shunt and the encephalocele with posterior excision, thereby facilitating optimal cortical gray matter development and enhancing neurological outcomes. https://thejns.org/doi/10.3171/CASE24259.

De Morsier syndrome, also known as septo-optic dysplasia (SOD), describes a triad of optic nerve hypoplasia, hypothalamic-pituitary dysfunction and midline abnormalities such as absent septum pellucidum or dysgenesis of the corpus callosum. It is a rare congenital disorder that an estimated incidence of 1/50,000 was recorded. This disease has a variety of clinical symptoms, which include visual manifestations (85-90%), intellectual delay (42.5-60%), seizures (27.5-55%) and endocrine abnormalities (50-55%). However, those patients with symptoms of global developmental delay and motor deficits could not be explained by the corpus callosum hypoplasia alone and were noted to manifest other underrecognized cortical malformations such as schizencephaly and polymicrogyria, hence termed De Morsier plus syndrome. In the Philippines, the existence of De Morsier plus syndrome with a lack of developmental disorders detected during adulthood is uncommon with no reported case yet. This report is a case of a 24-year-old, male, who presented with adult-onset seizure with associated eye symptoms. Cranial magnetic resonance imaging revealed bilateral schizencephaly in both parietal lobes with absent septum pellucidum, polymicrogyria, agyria-pachygyria and optic nerve atrophy. On electroencephalogram, epileptiform discharges were noted in the left parietal area. This case was managed under anti-seizure medication with no seizure recurrence and a good outcome. [ABSTRACT FROM AUTHOR]

Objective: 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. Methods: 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. Results: 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. Significance: 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. [ABSTRACT FROM AUTHOR]

Prenatal CNS disruptions can be associated with physically separate findings. Examples include cognitive issues in septo‐optic dysplasia and sporadic and WNT1‐related unilateral cerebellar hypoplasia, and physical findings such as thinning of the corpus callosum, ventriculomegaly, hippocampal abnormalities, olfactory tract and bulb hypoplasia, and distant cortical dysplasias with schizencephaly. Similar effects to toxicities with intraventricular hemorrhage in prematurity could occur earlier in development. CSF transportation of disruption by‐products would provide access to vulnerable areas through inflammatory effects on blood–brain barrier permeability. Outcomes are influenced by location and volume of byproducts in the CSF, timing, transport, and inflammatory responses. A particular association of vermis disruption with cognitive issues may be related to CSF flow distortions that avoid toxin dilutions in the third ventricle. Symmetrical contralateral cortical dysplasia with schizencephaly may reflect immunovascular field‐related vulnerabilities seen in situations such as vitiligo. [ABSTRACT FROM AUTHOR]

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, hemorrhage and differential diagnosis.

Purpose: To investigate the relationship between the anatomical features of schizencephaly and characteristics of epilepsy.Methods: 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.Results: 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).Conclusion: 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. [ABSTRACT FROM AUTHOR]

Background: Schizencephaly is a rare congenital disorder of cerebral cortical development. Clinical features vary based on the areas and severity of cortical involvement. The most prominent manifestations being motor deficits, seizures, and cognitive impairment. MRI has been the diagnostic modality of choice. Till now, a handful of case reports associating schizencephaly with psychiatric manifestations have been reported.Methods: In this brief report, we review the available literature and present the summary of a 50-year-old gentleman who presented with paranoia, irritability, impulsive spending, emotional lability, and circumstantial speech with perseveration of themes.Results: MRI findings are suggestive of closed lip schizencephaly.Conclusion: This case helps us in understanding the neurodevelopmental model and functional neuroanatomy of psychiatric symptom dimensions. [ABSTRACT FROM AUTHOR]

Schizencephaly is a very rare congenital birth defect. It is characterized by a cortical brain malformation that manifests as a grey-matter-lined cleft extending from the ependyma to the piamater. It is a rare condition, and few cases have been reported in the literature. The exact cause is unknown. Herein, we report a case of an infant presenting with left side hemiparesis. The CT scan of her brain revealed right fronto-temporal and left parieto-temporal open-lip schizencephaly; thus, urgent referral to a pediatric neurologist was made for early intervention.

The incidence rate of schizencephaly is 1.5 in 100,000 live births and the rate of holoprosencephaly is 1 in 16,000 live births. Both malformations are rare, but our institution has seen a dramatic increase in both malformations in recent years with no known cause. Schizencephaly is the most severe cortical malformation and holoprosencephaly is the most common defect in the prosencephalon during development however, it is still not very common to see a fetus with this defect live to delivery. Our institution seen four cases of schizencephaly and three cases of holoprosencephaly within two years. No two neonates seem to share a common factor. All had different co-morbidities and presentations, all mothers were different ages and showed few risk factors if any for these deformities. This paper is a report of the cases found of these rare birth defects seen at our institution in recent years.

Introduction Schizencephaly is one of the rare congenital defects of the central nervous system (CNS), known as neuronal migration disorders. The etiology of schizencecephaly is unequivocal. Established etiologies include in-utero infections (cytomegalovirus and herpes simplex virus, HSV type I), toxic abuse (cocaine, alcohol), as well as drug use (warfarin). Objectives he aim of the study was to analyze the clinical presentation of schizencephaly with particular consideration of the course of epilepsy in paediatric patients. Material and methods The study group consisted of 38 children with schizencephaly (20 of them had seizure) and was retrospectively assessed. Data were analyzed using SAS version 9.4. U Mann-Whitney and χ 2 tests and logistic regression analysis were used in statistical analyses. Results Epilepsy was the most frequent in bilateral type II schizencephaly (p=0.033). In logistic regression analysis, the presence of bilateral open schizencephaly significantly increased the risk of seizures (OR=11.67; 95%CI 2.44–55.83; p=0.002). Drug-resistant epilepsy was observed in 9 children (45% of the children with epilepsy). Prevalence of both epilepsy and drug-resistant epilepsy in schizencephaly did not significantly depend on gender, stage of development, type or localization of schizencephaly, and other coexisting CNS defects or clinical presentation of schizencephaly at follow-up in the study group of patients. Conclusions The bilateral type of schizencephaly was identified as an independent risk factor for epilepsy in the analyzed children.

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.

Schizencephaly is a highly uncommon clinical condition characterized by a diverse range of symptoms stemming from its numerous anatomical manifestations. The disorder is characterized by abnormalities in brain structure resulting from disruptions in neuronal migration. This article presents a case of schizencephaly in an Ethiopian child. The child, displaying delayed walking and speech difficulty since birth, was brought to the pediatric outpatient department for examination. The physical assessment revealed left-sided hemiparesis and an inability to sit without assistance. Subsequent magnetic resonance imaging findings confirmed the presence of open-lip schizencephaly. Therefore, neurorehabilitation, specifically highlighting the crucial importance of early intervention in enhancing cognitive and motor functions was initiated. It is imperative to acknowledge that, while a permanent cure for schizencephaly may not currently exist, neuro-rehabilitation plays a pivotal role in enhancing the overall quality of life for individuals affected by this condition., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Schizencephaly is a rare congenital brain structural abnormality that is not clearly understood and has no specific treatment yet. Therefore, cases related to it should be added to the literature. This report aims to introduce a rare case of severe schizencephaly co‐occurring with post‐traumatic intracranial epidural hematoma. [ABSTRACT FROM AUTHOR]

Abstract Schizencephaly is a rare congenital brain structural abnormality that is not clearly understood and has no specific treatment yet. Therefore, cases related to it should be added to the literature. This report aims to introduce a rare case of severe schizencephaly co‐occurring with post‐traumatic intracranial epidural hematoma.

Schizencephaly is an extremely rare congenital structural disorder presented in 1.54/100,000 births. In this article, we present one of the few cases of schizencephaly reported in Colombia, in which the linguistic barrier and the lack of resources made the differential diagnosis a challenge. The patient presented to the emergency department with focal impaired-awareness seizures associated with an inability to speak since birth. On physical examination, it was evident the loss of cephalic support, mental retardation, and left- sided hemiparesis for which a non-contrast brain computed tomography was performed showing findings that are in relation to open- lip schizencephaly (right frontoparietal brain cleft lined by gray matter which is connecting the subarachnoid space to the ventricular system, polymicrogyria and absence of septum pellucidum). Neuro-rehabilitation and antiseizure therapy were established with good outcomes. It is important to understand that nowadays does not exist any curative procedure, the mainstay of treatment is based on neuro- rehabilitation which should be initiated as soon as possible because it improves the cognitive and motor status of patients.

Objective: To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury.Methods: This was a single-center retrospective analysis of all cases of fetal cerebral anomalies suggestive of COL4A1 or COL4A2 gene mutation over the period 2009-2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. Between fetuses with and those without a mutation, we compared gestational age at the time of diagnosis, parity and fetal gender.Results: Among the 956 cases of cerebral anomaly diagnosed in our center during the 10-year study period, 18 fetuses were identified for inclusion. A pathogenic COL4A1 gene mutation was found in five of these cases, among which four were de-novo mutations. A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. The median (interquartile range) gestational age at diagnosis was significantly lower in cases with a mutation (24 (22-26) weeks) than in cases without a mutation (32 (29.5-34.5) weeks) (P = 0.03).Conclusions: A phenotype suggestive of cerebral injury was found in 18 of the 956 (1.9%) cases in our population, in 28% of which there was an associated COL4A1 or COL4A2 mutation. COL4A1 and COL4A2 gene mutations should be sought systematically in cases of severe and/or multifocal hemorrhagic or ischemic-hemorrhagic cerebral lesions, with or without schizencephaly or porencephaly. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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.

OBJECTIVE: This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS: The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and areas of subcortical heterotopia. The second patient is a 40-year-old man, her son. He was born post-term with neonatal distress and psychomotor developmental delay with congenital left leg paresis and strabismus, as well as childhood-onset focal motor seizures. Brain MRI showed a right nucleus-capsular porencephalic cavitation with enlargement of the homolateral ventricle and a focal right occipital cortico-subcortical encephalomalacia. A small heterotopic band was also present in the frontal left subcortical region. RESULTS: We tested both patients with a NGS panel for genetic epilepsies, which evidenced a missense mutation in COL4A2 gene (c.2972G>A, causing the aminoacidic substitution Gly991Glu). CONCLUSIONS: The phenotypic spectrum associated with COL4A2 mutations has not been extensively described in the literature. Testing for COL4A mutations is indicated in patients with malformations of cortical development, particularly in the presence of familial conditions, even in the absence of porencephaly or early hemorrhagic strokes. [ABSTRACT FROM AUTHOR]

Introduction: The authors describe a case of a patient with a prenatal diagnosis of Trisomy 18 with atypical manifestation, rare anomalies of the central nervous system and subsequent surgical treatment. Case presentation: The infant was diagnosed with holoprosencephalia, schizencephalia, corpus callosum agenesis and severe hydrocephalus. No significant heart, gastrointestinal or kidney defects were found. Being in otherwise good condition, the patient was qualified for a ventriculi-peritoneal shunt surgery due to rapidly increasing head circumference. Following the uneventful operation patient's parents reported a general improvement in their child condition. Conclusions: Bearing in mind the possibility of complications and the child's poor prognosis, the reasons for surgical intervention were evaluated, as well as the possible outcomes of withholding invasive treatment. Discussion over the benefits of palliative surgery and the risk of 'palliative harm' illustrate how selected children benefit from an interventionist approach. [ABSTRACT FROM AUTHOR]

Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation that was demonstrated in clinical diagnosis as global developmental delay (GDD) and brain anomaly without frontonasal dysplasia or other malformation.Case Presentation: This study reports the genetic analysis of a 4-month-old female infant presenting brain anomaly and GDD. She was the only child of unrelated parents. Early developmental was characterized by delays in fine motor, achieving gross motor, language, and social–cognitive milestones. She could not control her head or hold objects until 4 months of age. Brain magnetic resonance imaging revealed schizencephaly and dysgenesis of corpus callosum. Trio-based whole-exome sequencing revealed a heterozygous c.943C>T (p.Pro315Ser) in the EFNB1. Sanger sequencing confirmed this heterozygous alteration occurring in a dominant de novo manner, as a consequence of phenotypic and genotypic wild type in both parents.Conclusion:EFNB1 mutation is considered for a child with schizencephaly, and further study focusing on phenotyping is required to understand the possible contribution of environmental impact and genetic modifier in the expression of EFNB1.

Schizencephalies are abnormal clefts of the cerebral hemispheres that result from abnormal late neuronal migration and cortical organization. In the present study, we report a different type of unusual motor organization in a patient with a schizencephalic cleft in the right hemisphere and polymicrogyria in the opposite hemisphere. Despite similar brain pathology affecting the sensorimotor cortex, motor organization differed from previously known bilateral congenital brain lesions. We conducted a transcranial magnetic stimulation (TMS) and diffusion tensor image (DTI) study to confirm the motor organization. In this case, ipsilateral corticospinal projections to the paretic hands were observed during TMS of the less affected hemisphere, along with polymicrogyria, similar to the previous study. However, a crossed corticospinal tract to the paretic hand from the more severely affected hemisphere was observed in this case-a pattern of motor organization that has yet to be reported in this patient population. Our findings indicate that motor organization after early brain injury may be affected by the interhemispheric competition of the corticospinal system and bilateral brain lesions, thereby resulting in unilateral hemiparesis.

Septo-optic dysplasia is a rare brain malformation that can be associated with anomalous cortical development, such as schizencephaly, which is referred to as septo-optic dysplasia plus. This report describes septo-optic dysplasia-plus associated with unilateral atrophy of the midbrain and oculomotor nerve deficiency, which was diagnosed on MRI in a teenage male who presented with ophthalmoplegia.

Schizencephaly is a very rare congenital birth defect. It is characterized by a cortical brain malformation that manifests as a grey-matter-lined cleft extending from the ependyma to the pia mater. It is a rare condition, and few cases have been reported in the literature. The exact cause is unknown. Herein, we report a case of an infant presenting with left side hemiparesis. The CT scan of her brain revealed right fronto-temporal and left parieto-temporal open-lip schizencephaly; thus, urgent referral to a pediatric neurologist was made for early intervention. [ABSTRACT FROM AUTHOR]

Schizencephalies are abnormal clefts of the cerebral hemispheres that result from abnormal late neuronal migration and cortical organization. In the present study, we report a different type of unusual motor organization in a patient with a schizencephalic cleft in the right hemisphere and polymicrogyria in the opposite hemisphere. Despite similar brain pathology affecting the sensorimotor cortex, motor organization differed from previously known bilateral congenital brain lesions. We conducted a transcranial magnetic stimulation (TMS) and diffusion tensor image (DTI) study to confirm the motor organization. In this case, ipsilateral corticospinal projections to the paretic hands were observed during TMS of the less affected hemisphere, along with polymicrogyria, similar to the previous study. However, a crossed corticospinal tract to the paretic hand from the more severely affected hemisphere was observed in this case-a pattern of motor organization that has yet to be reported in this patient population. Our findings indicate that motor organization after early brain injury may be affected by the interhemispheric competition of the corticospinal system and bilateral brain lesions, thereby resulting in unilateral hemiparesis. [ABSTRACT FROM AUTHOR]

Introduction. Schizencephaly is one of the rare congenital defects of the central nervous system (CNS), known as neuronal migration disorders. The etiology of schizencecephaly is unequivocal. Established etiologies include in-utero infections (cytomegalovirus and herpes simplex virus, HSV type I), toxic abuse (cocaine, alcohol), as well as drug use (warfarin). Objectives. The aim of the study was to analyze the clinical presentation of schizencephaly with particular consideration of the course of epilepsy in paediatric patients. Materials and method. The study group consisted of 38 children with schizencephaly (20 of them had seizure) and was retrospectively assessed. Data were analyzed using SAS version 9.4. U Mann-Whitney and χ² tests and logistic regression analysis were used in statistical analyses. Results. Epilepsy was the most frequent in bilateral type II schizencephaly (p=0.033). In logistic regression analysis, the presence of bilateral open schizencephaly significantly increased the risk of seizures (OR=11.67; 95%CI 2.44–55.83; p=0.002). Drug-resistant epilepsy was observed in 9 children (45% of the children with epilepsy). Prevalence of both epilepsy and drug-resistant epilepsy in schizencephaly did not significantly depend on gender, stage of development, type or localization of schizencephaly, and other coexisting CNS defects or clinical presentation of schizencephaly at follow-up in the study group of patients. Conclusions. The bilateral type of schizencephaly was identified as an independent risk factor for epilepsy in the analyzed children. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]