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Axial FLAIR (a, b) images of the brain in a child with tuberous sclerosis showing multiple cortical tubers in both cerebral hemispheres and subependymal nodules (arrow) (a). Axial T2w (c) and FLAIR (d) sequences of the brain revealing a well-defined T2 hyperintense bubbly lesion which shows incomplete signal suppression on FLAIR with peripheral hyperintense rim and minimal perilesional edema in right frontal lobe, consistent with diagnosis of dysembryoplastic neuroectodermal tumor (DNET). MRI of the brain in another patient showing a well-defined, focal area of cortical thickening which appears hyperintense on axial FLAIR (e) and isointense to gray matter on T2w sequences (f) without mass effect in the right frontal cerebral region, suggestive of gangliocytoma
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Purpose
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 malf...
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Aim:
The purpose of this study is to classify the malformations of cortical development in children according to the embryological formation, localization, and neurodevelopmental findings. Seizure/epilepsy and electrophysiological findings have also been compared.
Material and methods:
Seventy-five children (age: 1 month-16.5 years; 56% male) fo...
Citations
... Classic lissencephaly or type 1 lissencephaly presents with decreased or absence of gyri and thickened cortex and is on the "agyri-pachygyriaband" spectrum with subcortical band heterotopia (SBH) due to migration arrest during early fetal development [1][2][3]. This is also commonly associated with congenital CMV [4]. Severity of lissencephaly can be classified from 1(mild) to 3(severe) based on subtypes including the gradient and grade of gyral malformation, cortical thickness, and other brain malformations [5]. ...
Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations. Here we present a case of a 4-month-old female with new onset infantile epileptic spasms syndrome (IESS) with initial etiology concerned for congenital cytomegalovirus (cCMV) due to a positive urine CMV PCR and maternal viral syndrome during pregnancy. Her brain MRI was significant for type 1 lissencephaly without other radiographical features of cCMV. The patient initially responded to high dose Prednisolone but had relapse of spasms at 9-month-old and required an ACTH course. She later developed generalized tonic seizures and focal impaired awareness seizures. Subsequent whole exome sequencing (WES) trio revealed a de novo PAFAH1B1 (c.405G > A, p.W135*) heterozygous nonsense variant which is pathogenic and thus solved the diagnostic puzzle. This case demonstrates that the absence of cCMV stigmata should raise concern for alternative etiology in cases of lissencephaly and the importance of genetic evaluation for subsequent management and family counseling.
... Gray matter clusters are seen in localizations that should not be in the brain. The incidence of epilepsy is very high in patients with gray matter heterotopia [11][12][13][14][15]. The most common subtype is SEH. ...
Introduction:
To compare the apparent diffusion coefficient (ADC) values of the white matter around heterotopia in children with unilateral subependymal heterotopia with those of the symmetrical normal cerebral hemisphere and control group.
Methods:
Between January 2011 and September 2021, 15 pediatric patients with unilateral focal subependymal heterotopia among 47 patients with heterotopia detected in brain magnetic resonance imaging (MRI) in our hospital were included in the study. The control group consisted of 15 age- and sex-matched children with normal neurological examination and normal brain MRI. In brain MRIs, ADC value was measured from the white matter around the heterotopia area and from the opposite cerebral hemisphere matched to the location, and from the bilateral location-matched white matter of the control group. The area of heterotopia was measured on axial T1-weighted MRI. The data were evaluated statistically.
Results:
There were eight girls and seven boys in the heterotopia group. The median age was 5.00 (min: 3, max: 14). There was no statistically significant difference between the ADC values of the heterotopia side and contralateral white matter of the heterotopia group. In addition, no statistically significant difference was found between the heterotopia side and opposite sides of the heterotopia and control groups ADC values.
Conclusion:
According to the findings of this study, no difference was found in the ADC values of the white matter around the lesion in children with subependymal heterotopia compared to the opposite cerebral hemisphere and control groups.
... It is often associated with enlargement of ipsilateral ventricle and neuronal heterotopias [45]. In FLAIR MRI, white-matter-signal intensity may change [46]. Hemispherectomy is often performed as a method of reducing the number of seizures. ...
Epilepsy is a common neurological disorder characterized by chronic, unprovoked and recurrent seizures, which are the result of rapid and excessive bioelectric discharges in nerve cells. Neuroimaging is used to detect underlying structural abnormalities which may be associated with epilepsy. This paper reviews the most common abnormalities, such as hippocampal sclerosis, malformations of cortical development and vascular malformation, detected by neuroimaging in patients with epilepsy to help understand the correlation between these changes and the course, treatment and prognosis of epilepsy. Magnetic resonance imaging (MRI) reveals structural changes in the brain which are described in this review. Recent studies indicate the usefulness of additional imaging techniques. The use of fluorodeoxyglucose positron emission tomography (FDG-PET) improves surgical outcomes in MRI-negative cases of focal cortical dysplasia. Some techniques, such as quantitative image analysis, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), diffusion tensor imaging (DTI) and fibre tract reconstruction, can detect small malformations—which means that some of the epilepsies can be treated surgically. Quantitative susceptibility mapping may become the method of choice in vascular malformations. Neuroimaging determines appropriate diagnosis and treatment and helps to predict prognosis.
... Hemimegalencephaly (HME) is a rare congenital malformation of cortical development (MCD) characterized by enlarged and dysplastic hamartomatous overgrowth of one or all parts of a cerebral hemisphere [1,2]. HME may be present in isolation or conjunction with other neurocutaneous syndromes such as epidermal nevus, Klippel-Trénauany-Weber syndrome, neurofibromatosis type 1, hypomelanosis of Ito, Proteus syndrome, or more rarely, tuberous sclerosis [3,4]. ...
... Clinical manifestations of HME and other MCDs vary depending on the severity of the malformation, and they commonly present as medical refractory epilepsy and cognitive impairment in the pediatric population and are rarely reported in the adult population [3,7]. Other clinical manifestations could be early feeding problems, infantile spasm, macrocephalus, hydrocephalus, and mild hemiparesis [2]. Most commonly, HME affects an entire hemisphere, but localized forms have also been reported in the literature, with the most notable being posterior quadrantic dysplasia (PQD) or hemi-HME with an enlargement of the parieto-occipito-temporal lobe, sparing the frontal lobe of a single hemisphere [4,[8][9][10][11]. ...
... Most commonly, HME affects an entire hemisphere, but localized forms have also been reported in the literature, with the most notable being posterior quadrantic dysplasia (PQD) or hemi-HME with an enlargement of the parieto-occipito-temporal lobe, sparing the frontal lobe of a single hemisphere [4,[8][9][10][11]. Dysmorphic ipsilateral occipital horn with high-signal posterior periventricular white matter and abnormal gyri can be observed in most patients with PQD [2,8]. ...
Hemimegalencephaly (HME) and its more localized form - posterior quadrantic dysplasia (PQD) - are rare malformations of cortical development (MCD) that normally manifest as refractory focal epilepsy and cognitive impairment in children. We report a case study of a 19-year-old woman who presented with seizure-like symptoms to the emergency department after discontinuing her seizure treatment having fled her country. MRI revealed typical signs of PQD. This case study demonstrates how an unusual mild clinical presentation led to the late diagnosis of this rare MCD.
Objective: The aim of the present study is to classify gray matter heterotopias according to magnetic resonance imaging findings and to define the accompanying malformations. Methods: Images of all pediatric patients who were detected to have heterotopia in brain magnetic resonance imaging between January 2012 and June 2020 were retrospectively evaluated. The type, location of heterotopia, and accompanying cerebral anomalies were analyzed. Results: A total of 42 patients, 22 male, and 20 female, with a mean age of 7.80 ± 4.53 years (2-16 years) with gray matter heterotopia were included in the study. Of the patients, 33 (78.6%) had subependymal, 7 (16.7%) had subcortical, and 2 (4.7%) had band heterotopia. Twenty-four patients had epilepsy. Conclusion: The sub ependymal heterotopias were frequently located in the trigon region of the lateral ventricles. All subcortical heterotopias were in the frontal and unifocal locations. Band heterotopias were located bilaterally and subcortically in a symmetrical fashion in the cerebral hemisphere. The main accompanying anomalies were ventriculomegaly, Arnold-Chiari malformation, and corpus callosum agenesis. Considering the neurological developments of pediatric patients, it is important to identify the type of heterotopia and accompanying anomalies for patient management.
Congenital brain malformations are abnormalities present at birth that can result from developmental disruptions at various embryonic or fetal stages. The clinical presentation is nonspecific and can include developmental delay, hypotonia, and/or epilepsy. An informed combination of imaging and genetic testing enables early and accurate diagnosis and management planning. In this article, we provide a streamlined approach to radiologic phenotyping and genetic evaluation of brain malformations. We will review the clinical workflow for brain imaging and genetic testing with up-to-date ontologies and literature references. The organization of this article introduces a streamlined approach for imaging-based etiologic classification into malformative, destructive, and migrational abnormalities. Specific radiologic ontologies are then discussed in detail, with correlation of key neuroimaging features to embryology and molecular pathogenesis.
Objective
: To evaluate seizure and developmental outcomes in the short and long term in children with hemimegalencephaly (HMEG) after surgery.
Methods
: This is a cohort study of 36 children who underwent surgery for HMEG were followed up for at least 1 year postoperatively. The Griffiths Mental Development Scales, Ages and Stages Questionnaire version 3, and Peabody Developmental Motor Scales were used to assess development.
Results
: The median postoperative follow-up duration was 2.7 (1.0-5.0) years, and median age at surgery was 1.9 years (5.8 months-5.9 years). At the last follow-up, 83% of children were seizure-free. the predicted probability of being seizure-free three years after surgery was 79%. The proportion of patients who were moderate to severe delay declined from 97% preoperatively to 76% at least 1 year after surgery. Catch-up, stabilization, and regression of developmental quotient (DQ) was observed in 41%, 35%, and 24% of children 3 months after surgery, respectively. The corresponding proportions during long-term follow-up were 40%, 33%, and 27%, respectively. Change of DQ shortly after surgery was negatively correlated with age at seizure onset and age at surgery. The long-term DQ was positively correlated with the preoperative DQ. Long-term change of DQ was positively correlated with change of DQ shortly after surgery.
Conclusions
: Most of patients with HMEG could achieve seizure free after surgery. After surgery, the proportion of catch-up, stabilization, and regression in both short- and long-term DQ was approximately 40%, 35%, and 25%, respectively. The change of DQ shortly after surgery may be a predictor for long-term developmental change.
Background
Hypothalamic hamartomas (HH) are rare, and it is even rare when combined with gray matter heterotopia (GMH) and polymicrogyria (PMG).
Case Description
A 5 years-old boy with HH, GMH and PMG were retrospectively evaluated. The clinical data which include the symptoms, examinations, diagnosis and treatment were collected. The patient had a chief complaint of gelastic seizures (GSs) and intellectual deficiency. Brain MRI showed HH, paraventricular nodular heterotopia and PMG. Video-electroencephalographys (V-EEGs) were normal. The patient underwent resection of the HH via transcallosal transseptal interforniceal approach. Seizures disappeared immediately after complete resection of HH, and the intellectual development was getting better.
Conclusions
In this extremely rare case, resection of the HH eliminates the symptoms. However, we still need to be cautious about the possible epilepsy that may be caused by GMH and PMG.
