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Neuroradiology Sep 2018In 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...
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.
Topics: Adolescent; Child; Child, Preschool; Female; Fetal Diseases; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Pregnancy; Schizencephaly
PubMed: 30027296
DOI: 10.1007/s00234-018-2056-7 -
Neurology India 2022Schizencephaly is a rare congenital disorder of cerebral cortical development. Clinical features vary based on the areas and severity of cortical involvement. The most... (Review)
Review
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.
Topics: Brain; Cognitive Dysfunction; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Psychotic Disorders; Schizencephaly; Seizures
PubMed: 35532651
DOI: 10.4103/0028-3886.344662 -
AJNR. American Journal of Neuroradiology Nov 2022The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia has been reported on previous occasions. We evaluated a...
BACKGROUND AND PURPOSE
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.
MATERIALS AND METHODS
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.
RESULTS
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.
CONCLUSIONS
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.
Topics: Adult; Humans; Adolescent; Telangiectasia, Hereditary Hemorrhagic; Schizencephaly; Polymicrogyria; Retrospective Studies; Arteriovenous Malformations
PubMed: 36265891
DOI: 10.3174/ajnr.A7677 -
Annals of Medicine and Surgery (2012) Jan 2022Schizencephaly is a central nervous system (CNS) developmental disorder characterized by abnormal cleft extending from the lateral ventricles to the cerebral cortex....
Schizencephaly is a central nervous system (CNS) developmental disorder characterized by abnormal cleft extending from the lateral ventricles to the cerebral cortex. Clinically, it occurs as -mantle, closed lip and open lip types which may be unilateral or bilateral. The exact cause of schizencephaly is not known but genetic disorders, exposure to teratogens, viral infections and maternal age are implicated. We present a case of bilateral open lip schizencephaly with some degrees of neurological disorders caused by increased intra-cranial pressure (ICP) due to ventriculomegaly. We applied ventriculo-peritoneal shunt (V-P shunt) to the patient with considerable improvement after post-operative follow-up.
PubMed: 35079358
DOI: 10.1016/j.amsu.2021.103204 -
BMJ Case Reports Sep 2020Schizencephaly is a rare central nervous system (CNS) malformation secondary to neuronal migration defects. The pathogenesis is complex and is secondary to environmental...
Schizencephaly is a rare central nervous system (CNS) malformation secondary to neuronal migration defects. The pathogenesis is complex and is secondary to environmental and genetic factors. Clinically, the majority of patients present with varying degrees of motor and psychological disturbances. Imaging plays a cornerstone in the diagnosis by identifying the characteristic lesional features and recognising other associated abnormalities such as an absent septum pellucidum and corpus callosum dysgenesis. Here, we present a male paediatric case who presented with an interestingly asymptomatic unilateral right closed-lip schizencephaly and review the aetiology, clinical presentation and imaging characteristics of the disease and associated literature.
Topics: Aged; Angiography; Blood Flow Velocity; Female; Humans; Lip; Schizencephaly; Ultrasonography
PubMed: 32928828
DOI: 10.1136/bcr-2020-235004 -
Pediatric Neurology Oct 2023COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal and neonatal intracranial hemorrhage,...
BACKGROUND
COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal and neonatal intracranial hemorrhage, porencephaly, and schizencephaly. Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders are not well characterized.
METHODS
This is a retrospective case series of fetal MRI findings in eight patients with intraparenchymal hemorrhage (IPH) and COL4A1/A2 variants, five of whom have postnatal imaging and clinical follow-up.
RESULTS
IPH was multifocal and bilateral in four of eight patients. IPH involved the frontal lobes in all cases and basal ganglia in six of eight. The median maximum diameter of IPH was 16 mm (range 6 to 65 mm). All patients had ventriculomegaly, and four of eight had intraventricular hemorrhage. Prenatal IPH size correlated clinically with motor outcomes, and none had clinically symptomatic recurrent hemorrhage.
CONCLUSION
COL4A1/A2 variants can present with a spectrum of IPH prenatally, including small and/or unifocal IPH, as well as multifocal and bilateral IPH, involving the frontal lobes and basal ganglia. Given the wide spectrum of IPH severity seen on fetal brain MRI, genetic testing for COL4A1/A2 variants should be considered in all cases of fetal IPH.
Topics: Infant, Newborn; Female; Humans; Pregnancy; Retrospective Studies; Intracranial Hemorrhages; Cerebral Hemorrhage; Fetal Diseases; Collagen Type IV; Magnetic Resonance Imaging
PubMed: 37562171
DOI: 10.1016/j.pediatrneurol.2023.07.008 -
Annals of Agricultural and... Jun 2020Schizencephaly is one of the rare congenital defects of the central nervous system (CNS), known as neuronal migration disorders. The etiology of schizencecephaly is...
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.
Topics: Adolescent; Anticonvulsants; Child; Child, Preschool; Drug Resistant Epilepsy; Female; Humans; Infant; Male; Poland; Retrospective Studies; Risk Factors; Schizencephaly; Seizures
PubMed: 32588606
DOI: 10.26444/aaem/122796 -
Developmental Medicine and Child... Apr 2022To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly. (Observational Study)
Observational Study
AIM
To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly.
METHOD
In this observational study, we describe the developmental, neurological, cognitive, and brain imaging characteristics of 17 patients (six males, 11 females; mean age 12y 3mo standard deviation [SD] 5y 8mo, range 5y-24y 6mo) and identify 14 new variants of WDR62. We similarly analyse the phenotypes and genotypes of the 59 previously reported families.
RESULTS
Brain malformations, including pachygyria, neuronal heterotopia, schizencephaly, and microlissencephaly, were present in 11 out of 15 patients. The mean full-scale IQ of the 11 assessed patients was 51.8 (standard deviation [SD] 12.6, range 40-70). Intellectual disability was severe in four patients, moderate in four, and mild in three. Scores on the Vineland Adaptive Behavior Scales obtained from 10 patients were low for communication and motor skills (mean 38.29, SD 7.74, and 37.71, SD 5.74 respectively). The socialization score was higher (mean 47.14, SD 12.39). We found a significant difference between scores for communication and daily living skills (mean 54.43, SD 11.6; p=0.001, one-way analysis of variance). One patient displayed progressive ataxia.
INTERPRETATION
WDR62-related cognitive consequences may be less severe than expected because 3 out of 11 of the assessed patients had only mild intellectual disability and relatively preserved abilities of autonomy in daily life. We identified progressive ataxia in the second decade of life in one patient, which should encourage clinicians to follow up patients in the long term.
Topics: Adolescent; Ataxia; Cell Cycle Proteins; Child; Child, Preschool; Female; Humans; Intellectual Disability; Male; Microcephaly; Nerve Tissue Proteins; Young Adult
PubMed: 35726608
DOI: 10.1111/dmcn.15060 -
Seizure May 2022To investigate the relationship between the anatomical features of schizencephaly and characteristics of epilepsy.
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.
Topics: Drug Resistant Epilepsy; Electroencephalography; Epilepsy; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Retrospective Studies; Schizencephaly; Seizures
PubMed: 35462301
DOI: 10.1016/j.seizure.2022.04.002