Schizencephaly Research Articles

Clinical and functional disturbances in epilepsy patients with schizencephaly

To study the features of diagnosing and predicting structural epilepsy in children with schizencephaly (SE) based on the analysis of clinical, electrophysiological and neuroimaging results. Fifteen patients with epilepsy and SE (seven boys and eight girls), aged from 3 months to 14 years, were examined. Unilateral SE was detected in ten patients (closed - in four, open - in six), bilateral open SE was detected in five patients. The predominant localization of the anomaly is in the frontal region. In 100% of cases, cognitive and motor impairments of varying severity were detected. In the study group, 11 patients (73.3%) were diagnosed with epilepsy before the age of 6 years. The clinical presentations of epilepsy in children with SE included focal seizures in ten patients (73.3%), epileptic spasms in three patients (20.0%), focal seizures with secondary generalization in five (33.3%), atonic - in one child (6.7%). Refractory epilepsy was noted in 26.7% children with SE, and the absence of positive electroencephalographic changes in 40% of children. The extent of structural brain damage in SE in patients with epilepsy correlates with the degree of cognitive and motor deficits. The form of epilepsy, the semiotics of epileptic seizures, and the effectiveness of antiepileptic therapy do not depend on the type of SE, but correlate with the extent of cortical disorders.

De Morsier plus syndrome: A rare congenital disorder presenting with adult onset seizure

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.

Prenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations.

To: (1) Evaluate intrauterine MRI (iuMRI) findings in fetuses with suspected cCMV and correlate these with final diagnosis(es). (2) Correlate iuMRI in cases of confirmed cCMV with clinical outcomes. Retrospective cohort of iuMRI referrals for suspected cCMV between 2010 and 2018. Confirmed cCMV defined as positive amniotic fluid or postnatal CMV polymerase chain reaction (PCR) test and excluded cCMV defined by negative postnatal PCR. Twenty-nine singleton fetuses had iuMRI for suspected cCMV (median gestation 28weeks (IQR 24-32). No postnatal outcome (n=6) and no cCMV ascertainment (n=5) provided 18 cases for analysis. cCMV positive (n=11): three fetal deaths occurred, one spontaneous and two terminations of pregnancy (TOP), one for microcephaly and one for extensive polymicrogyria; 4/ 8 survivors had normal US and iuMRI with normal newborn hearing screen (AABR)/ neurological examination; two had polymicrogyria and cerebral palsy (CP) GMFCS II and V; 1 had isolated ventriculomegaly and failed newborn AABR; 1 had ventriculomegaly with germinolytic cysts, normal AABR and development at 3/12. cCMV negative (n=7): Germinolytic cysts were present in 4 cases with 2/4 also having callosal hypogenesis and postnatal genetic and clinical diagnosis of mitochondrial disorder. The third and fourth had a normal newborn metabolic screen and neurological examination. Three deaths were due to toxoplasmosis (n=1), TOP for severe ventriculomegaly (n=1) and bilateral schizencephaly (n=1). Polymicrogyria in fetuses with cCMV, undetected with prenatal US, was associated with CP. Germinolytic cysts were non-specific for cCMV and due to mitochondrial disorders when callosal hypogenesis was present.

Psychomotor Retardation, Low Set Ears, Retrognathia, Facial Dysmorphism and Schizencephaly: A New Dysmorphic Syndrome

Background: Schizencephaly is a rare primary congenital brain defect of heterogeneous nature resulting from abnormal morphogenesis with a very early disruption of the grey matter migration during embryogenesis. Braga et al (2018) reviewed 156 articles including 734 patients with schizencephaly, and none of them had facial dysmorphism, low set ears or micrognathia Patients and methods A dysmorphic male infant who was referred to the neuropsychiatric consultation clinic of the Children Teaching hospital of Baghdad medical city was studied. Results Four month male infant presented with psychomotor retardation with no interaction with the mother and no recognition of her face. He had low set ears, retrognathia, and facial dysmorphism with narrow and upslanting palpebral fissures and thin upper lips. Family history was negative for a similar condition. Brain CT-scan showed open limb bilateral schizencephaly and karyotype showed normal finding. Conclusion: A new dysmorphic syndrome associated with schizencephaly, facial dysmorphism, low set ears and micrognathia is reported.

Further refinement of COL4A1 and COL4A2 related cortical malformations

Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed to clarify the phenotypic spectrum of COL4A1/A2 mutations in the context of cortical malformations that include schizencephaly, polymicrogyria and/or heterotopia. MethodsWe screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event. These included 6 cases with asymmetrical or unilateral schizencephaly and/or polymicrogyria and 3 cases with bilateral schizencephaly. ResultsOne de novo missense COL4A1 mutation (c.3715 G > A, p.(Gly1239Arg)) and two COL4A2 mutations were found, respectively in one familial case (c.4129G > A, p.(Gly1377Arg)) and one sporadic patient (c.1776+1G > A). In three other cases, COL4A1 variants of unknown significance were identified. None of our patients demonstrated neuromuscular or hematological anomalies. Brain malformations included a combination of schizencephaly, mainly asymmetrical, with porencephaly or ventriculomegaly (3/3 mutated patients). We did not observe microbleeds or microcalcifications in any of our cases, hence we do not believe that they represent a distinctive feature of COL4A1/A2 mutations. ConclusionsOur study further emphasizes the need to search for both COL4A1 and COL4A2 mutations in children presenting with uni- or bilateral polymicrogyria with schizencephaly, even in the absence of intracranial microbleeds, calcification or associated systemic features.

Bilateral Schizencephaly with Septo Optic Dysplasia Rare Cause of Seizure Disorder

Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits or clefts in the cerebral hemispheres extending from the lateral ventricle to the cerebral cortex. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogenous and include teratogens, prenatal infarction/infections, maternal trauma, or EMX2 mutations. It is a central nervous system disorder with variable presentations. People with this disorder commonly have developmental delays, delays in speech and language skills, seizures disorder and problems with brain-spinal cord communication. This condition is present at birth and manifests early in life. This patient presented with seizure and growth retardation and investigation revealed bilateral Schizencephaly with Septo optic dysplasia.Faridpur Med. Coll. J. Jan 2018;13(1): 50-52

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.

Schizencephaly and porencephaly are extremely rare types of cortical dysplasia. Case 1: Prenatal magnetic resonance imaging (MRI) showed wide clefts in the frontal and parietal lobes bilaterally. On postnatal day 3, MRI T2-weighted images showed multiple hypointensities in the clefts and ventricular walls, suggestive of hemosiderosis secondary to intracranial hemorrhage. Case 2: Prenatal MRI showed bilateral cleft and cyst formation in the fetal cerebrum, as well as calcification and hemosiderosis indicative of past hemorrhage. T2-weighted images showed hypointensities in the same regions as the calcification, corresponding with hemosiderosis due to intracranial hemorrhage on postnatal day 10. Thus, prenatal MRI was useful for diagnosing schizencephaly and porencephaly. Schizencephaly and porencephaly were thought to be due to fetal intracranial hemorrhage, which, in the porencephaly case, may have been related to a mutation of COL4A1.

Clinical, imaging features and follow-up study of schizencephaly in 35 children

Objective To summarize the correlation between clinical manifestations and imaging characteristics of schizencephaly in order to provide a basis for the diagnosis and prognosis. Methods Thirty-five outpatients with schizencephaly diagnosed at Department of Pediatric Neurology of Henan Provincial People′s Hospital from January 2009 to May 2015 were retrospectively selected, and they were divided into different groups (patients with unilateral lesions or bilateral lesions) according to their cranial magnetic resonance imaging (MRI) features.The clinical manifestations were compared between different groups. Results Of 35 patients, 19 (54.3%) patients were male and 16 (45.7%) patients were female.Twenty-four patients were found with unilateral lesions(68.6%), including 16 cases (66.7%) with hemiparesis and 8 cases(33.3%) with no motor impairment.Mental retardation was observed in 8 patients (33.3%) and 6 patients (25.0%) showed speech impairment.Eleven patients were found the bilateral lesions (31.4%), including 5 patients (45.4%) with tetraparesis, 4 patients (36.4%) with hemiparesis, and 2 patients (18.2%) with no motor impairment.Mental retardation was observed in 9 patients (81.8%) and 9 patients (81.8%) showed speech impairment.There were significant differences in motor impairment, mental retardation and speech impairment between the unilateral lesion group and bilateral lesion group (Z=-2.40, P=0.002; χ2=7.09, P=0.012; χ2=9.94; P=0.003). Epileptic seizure occurred in 18 patients (51.4%). Binary Logistic regression analysis indicated that cortical dysplasia beyond the cleft and open-lip lesions were the major risk factors for seizures (OR=4.44, 2.73; P=0.005, 0.029). Imaging characteristics: there were closed-lip lesions in 10 patients (28.6%), open-lip lesions in 21 patients (60.0%) and open/closed-lip lesions in 4 patients (11.4%). Anatomic localization of all clefts was found in the frontal lobes in 19 patients (54.3%), in frontoparietal lobes in 11 patients (31.4%), in pa-rietal lobes in 2 patients (5.7%), and in occipital lobes in 3 patients (8.6%). After 1-6-year follow-up, 12 patients treated with antiepileptic drug were seizure - free (all with unilateral lesions), and 6 patients had refractory epilepsy (3 patients with bilateral lesions). Conclusions Schizencephaly is a rare structural disorder of cerebral cortical development.Those with bilateral lesions are usually manifested with severe motor, speech impairment and mental retardation and their prognosis is poor.Schizencephaly patients complicated with cortical dysplasia beyond the cleft or open-lip lesions are more easily attacked by seizures.MRI plays an important role in the diagnosis and prognosis judgment of schizencephaly. Key words: Schizencephaly; Epilepsy; Hemiplegia; Prognosis

Closed Lip Schizencephaly: A Case Report

Neuronal migration defects are rare causes of seizure disorder and developmental problems. Schizencephaly the most severe form is an extremely rare entity. Presentation and outcome of schizencephaly are variable, but it typically presents with hemiparesis, seizures and developmental deficits. Usually the severity of symptoms is related to the amount of the brain affected by the abnormality. Appropriate diagnosis of the disease is necessary to avoid incorrect treatment. Here we report a rare case of closed lip schizencephaly.

Atypical clinical schizencephaly

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.

Schizencephaly: Dramatic Images in a Normally Functioning Adult

Schizencephaly: Dramatic Images in a Normally Functioning Adult

Study on prenatal diagnosis of fetal malformations of cortical development by ultrasonography

Objective To explore sonographic manifestation of fetal malformations of cortical development.Methods From August 2012 to January 2014 three hundred and twenty-five pregnancy women referred to our institution for fetal brain MRI,which were diagnosed or suspected of central nervous system abnormalities by prenatal ultrasound examination.Results In 325 of cases,14 cases (4％) were diagnosed of malformations of cortical development.Ten eases were indicated by prenatal ultrasound,including three cases of heterotopic gray matter,six cases of microcephaly and one case of hemimegalencephaly; four cases were missed by prenatal ultrasound,including two cases of schizencephaly,one case of tuberous sclerosis,and one case of hypoplasia.Conclusions Cortical malformations can be diagnosed by prenatal ultrasonography based on typical imaging characteristics.Prenatal ultrasound combined with MRI is a powerful tool in diagnosing fetal malformations of cortical development. Key words: Ultrasonography, prenatal; Malformations of cortical development; Magnetic resonance imaging

Bilateral schizencephaly Type II

Schizencephaly is one of the most severe forms of neuronal migration defects and is an extremely rare cause of seizure disorder. We report a case of bilateral schizencephaly (Type II) presenting as seizure disorder since birth. This case is rare because of the relatively benign features compared to other reported cases. Compared to other cases, this patient has normal cognitive and motor functioning. Given the scant literature on schizencephaly in India's paediatric population, this case highlights the possibility of a very rare entity associated with seizures. MRI can detect this condition.

Congenital Cytomegalovirus Infection and Brain Clefting

BackgroundHuman cytomegalovirus, a major cause of permanent neurodevelopmental disability in children, frequently produces intracranial abnormalities, including calcifications and polymicrogyria, in infants with congenital cytomegalovirus infections. This report describes the features of cerebral cortical clefting, including schizencephaly, in children with congenital cytomegalovirus infection. MethodsThis is a retrospective review of the medical records of infants and children with congenital cytomegalovirus infection evaluated at Primary Children's Medical Center, Salt Lake City, Utah, between 1999 and 2008. FindingsTwenty-five children with congenital cytomegalovirus infection were identified during this 10-year period; 23 (92%) had computed tomography and 17 (68%) had magnetic resonance imaging. Imaging was obtained at a median age of 6 months (mode 1 month or less). Of 15 children with confirmed congenital infections, 10 (66%) had polymicrogyria or abnormal gyral patterns, five (33%) had cleft cortical dysplasia, and two (13%) had schizencephaly. Of 10 children with suspected congenital cytomegalovirus infection, eight (80%) had polymicrogyria, two (20%) had cleft cortical dysplasia, and one (10%) had bilateral schizencephaly with calcifications. Seventeen of the 25 infants (68%) had intracranial calcifications. InterpretationThese results indicate that clefting, either as cleft cortical dysplasia or schizencephaly, is an important feature of congenital cytomegalovirus infection.

Clinical and Radiologic Features of Unilateral and Bilateral Schizencephaly in Polish Pediatric Patients

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.

A Rare Case of Right Frontal and Ethmoidal Bony Deformity With Schizencephaly

No AbstractDOI: http://dx.doi.org/10.3126/jnps.v32i3.6123J. Nepal Paediatr. SocVol.32(3) 2012 270

Clinical Features of Cerebral Cortex Malformations in Children: A Study in Upper Egypt

Malformation of Cortical Development (MCD) corresponds to a broad spectrum of cerebral lesions resulting from cortical development abnormalities during embryogenesis. MCD are increasingly recognized as an important cause of epilepsy, especially refractory ones. Aims: Evaluation of pattern and clinical spectrum of MCD. Patients and methods: The data of children presented to the Pediatric Department, or Pediatric Neurology Clinic, Sohag University Hospital whom Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) brain showing MCD were collected retrospectively regarding their history, examinations, and developmental parameters, Electroencephalography (EEG), Intelligence Quotient (IQ). Results: during the study periods we reviewed the data of 50 Child with MCD, the mean age of the study group was 3.7 years with age range from 4 days to 15 years. The majority of the patients (50%) belonged to the age group 1-5 years old. Convulsions were the main complaint in the majority of children 21 (42%) out of 50 child, followed by global developmental delay in 20 out of 50 child. Seizures generally were present in (82%). Concerning type of seizures, multiple seizure types were found in 16 (39%) out of 41 child, partial seizures found in 13 (31.7%), generalized tonic in 6 (14.6%), infantile spasm in 4 (9.8%), and generalized tonic-clonic in 2 (4.8%). Types of malformation of cortical development in the studied children as defined by neuro-imaging, (42%) had lissencephaly, (16%) had bilateral Schizencephaly, (12%) had unilateral schizencephaly, (12%) had polymicrogyria, (10%) had focal cortical dysplasia, (6%) had periventricular heterotopia, and one child with subcortical laminar heterotopia. Conclusion: The common cortical malformations found in Sohag University Hospital were lissencephaly, bilateral Schizencephaly, unilateral schizencephaly. Also the most common clinical features of MCDs in our community are refractory seizures and/or global developmental delay, and the most valuable tool in diagnosis is brain MRI. Recommendations: Informing pediatricians to raise their clinical suspicion to MCDs in children presented by frequent, intractable, early onset, and partial or multiple types’ seizures and/or global developmental delay, and that MRI brain must be done then.

Schizencephaly: A study of 16 patients

ObjectiveTo present 16 patients with schizencephaly and neurological involvement, and analyse their characteristics and neuroimages. Material and methodsThe study included 16 patients, 8 males and 8 females, all of whom were diagnosed with schizencephaly at less than 3 years of age; 2 patients were diagnosed prenatally. Schizencephaly was identified by computerised tomography (CT) in 1 patient and by MR or three-dimensional MR (3DMR) with a 1.5tesla apparatus in the others. Most patients were referred for evaluation because of psychomotor delay, motor disabilities and/or seizures. ResultsFive patients had bilateral schizencephaly with open lips (2 of them had suffered intrauterine cytomegalovirus infections); 2 showed unilateral schizencephaly with separated lips, 8 presented unilateral schizencephaly with fused lips, and 1 had schizencephaly with open lips on one side and fused lips on the other. Prenatal cytomegalovirus infection was diagnosed in 2 patients. A cerebral malformation that affected the midline was diagnosed by routine ultrasound studies in 2 patients. Eight patients (50%) presented with seizures that were focal, except for one patient who showed secondary generalisation. The latter was the only patient whose disease was refractory to complete seizure control with antiepileptic medication. All patients had some degree of motor deficit, which was either unilateral (hemiparesis) or bilateral (tetraparesis). Conclusion3DMR imaging was very important in diagnosing of schizencephaly in our patients because it showed the polymicrogyria that covered the area of the cleft and permitted us to rule out porencephaly. Neuronal migration disorders such as heterotopias and, more frequently, cortical dysplasias, were observed in several patients. Half of the patients had epilepsy which was controlled with antiepileptic medication, except in 1 patient.

Functional MRI study of the brain with malformations of cortical development

Objective To explore the patterns of motor and linguistic activation in cortical and its correlations with abnormal gray matter in patients with malformations of cortical development(MCD)and epilepsy.Methods Seven MCD patients with epilepsy(2 patients with focal cortical dysplasia,2 heterotopia,2 schizencephaly,and 1 polymicrogyria)underwent blood-oxygen-level-dependent(BOLD)functional MRI(fMRI)in a 3 T MR scanner when practicing bilateral fingers tapping,toes twisting,verb generation,and picture naming.Functional images were post-processed by using SPM 5 software based on a general linear model(GLM)to generate activations above a uniform threshold with the cluster size (≥30 voxels,P ＜0.001 corrected).The activations were recognized and classified by two experienced neuroradiologists,and then compared with that in abnormal gray matter.Results The clusters and intensities of motor activations were mainly located in the sensormotor cortex(SMC)and premotor area (PMA).In linguistic tasks,activations produced by verb generation were found in language-associated cortical regions and PMA with higher activation in Wemicke area,picture naming significantly in the visual cortex,and language in Broca area.Combination of the two linguistic tasks produced significant clusters and intensities in language cortex.For MCD patients with abnormal cortical abnormalities,motor and language task could produce neuronal activities within normal as well as abnormal cortex regions.In 6 patients who underwent resective surgery,epileptic seizures decreased significantly,and the follow-up images demonstrated no new neurological dysfunctions and cognitive impairments.Conclusions fMRI can visualize neuronal activities in patients with MCD and epilepsy and demonstrate the motor and linguistic activations occurring in normal and abnormal gray matter.It should be cautious for surgery in patient with MCD and epilepsy. Key words: Cerebral cortex; Nervous system abnormalities; Grey matter heterotopia; Epileptic foci; Magnetic resonance imaging

Schizencephaly: Case Report

Problem statement: Whereas schizencephaly is a malformation of cortical development which exact cause remains unknown, is almost entirely characterized by clefts extending from the pial surface to ependymal surface and could be unilateral or bilateral. Oftentimes, it also occurs in association with other abnormalities. Over the years, two types were described in literature, lips closed and open. Therefore, our intention is describe a case of schizencephaly monitored by the Neurology Service of Nova Iguacu University Hospital. Approach: A 29-year old single male student, presenting clinical history of epilepsy since he was 23 years old (partial seizures with secondary generalization) showed a global delay in neuropsychomotor development. Results: The patient has been admitted in the emergency department and his seizures were controlled with IV diazepan, followed by phenobarbital and phenotoyn. CT scan has revealed a cortical maldevelopment described as bilateral schizencephaly. After these procedures, he was released six days later, seizure-free, using carbamazepine and phenotyn. Conclusion: Is indeed that prognosis for individuals with schizencephaly varies depending on the size of the clefts and the neurological deficit degree. In general, treatment for individuals with schizencephaly usually consists of physical therapy, occupational therapy, treatment for seizures and, in a few cases complicated by hydrocephalus, a shunt is required.