The advent of MRI enables us to make an in-vivo diagnosis of cortical dysplastic lesions which are highly epileptogenic and show the variety of seizure patterns. Authors report a case of rolandic cortical dysplasia who had highly intractable focal motor clonic seizures. Invasive recording with subdural grid was very helpful in delinating the epileptogenic area as well as in function mapping of eloquent areas. Total removal of dysplastic lesion could treat this highly intractable epilepsy succesfully.
Diagnosis ; Epilepsy ; Magnetic Resonance Imaging ; Malformations of Cortical Development* ; Seizures

Cortical dysplasia is a rare developmental disorder developed from a defect of neuronal migration. It is characterized by disruption of the normal cortical lamination by abnormal large nerve cells and large astrocytes in the cerebral mantle, often causing intractable seizures. The advance of magnetic resonance imaging enables us to make an in-vivo diagnosis of cortical dysplasia. The authors present a case of 23-months-old girl, who underwent temporal lobectomy for medically intractable seizures.
Astrocytes ; Diagnosis ; Epilepsy* ; Female ; Humans ; Magnetic Resonance Imaging ; Malformations of Cortical Development* ; Neurons ; Seizures

OBJECT: Surgical treatment of cortical dysplasias (CDs) presenting with intractable seizures is challenging, because isualization/localization of the lesion is difficult, correlation with seizure foci needs comprehensive investigations, and the reported surgical results are not satisfactory. We report our result of surgical treatment of CD classified from the surgical point of view. METHODS: Definition of CD was a visible dysplastic lesion on MRI or MRI-negative (normal MRI) case with pathological diagnosis of moderate to severe dysplasia. During the last 4.5 years, we had operated on 36 cases of intractable epilepsy with CDs. We divided the 36 cases into 4 groups ; Group A : diffuse bilateral hemispheric dysplasia, Group B : diffuse lobar dysplasia, Group C : focal dysplasia, and Group D : moderate to severe degree of cortical dysplasia with normal MRI. All but one patient in Group C were monitored at EMU using subdural electrodes for seizure localization and functional mapping. RESULTS: The incidence of CD in the whole epilepsy surgery cases was 12.4%. Mean age was 21.3 years. Mean age at seizure onset was 8.5 years. Mean follow up period was 26.0 months. Twenty-six (72.2%) patients (20 and 6, respectively) belong to Engel Class I and II. There were 5, 9, 9, and 13 cases in Groups A, B, C, and D, respectively. Groups A and B had significantly lower age at seizure onset and significantly poorer surgical outcome compared to Groups C and D (p<0.05). If the outcome was compared on the extent of removal of CD, patients with completely removed CD had very significantly better outcome than those with partial removal (p<0.001). CONCLUSIONS: We conclude that intractable epilepsy with CD can be treated surgically with comprehensive preoperative approaches. Deliberate resective procedures aiming at complete removal of dysplastic tissue ensure excellent seizure control without permanent neurological deficit.
Diagnosis ; Dromaiidae ; Electrodes ; Epilepsy ; Follow-Up Studies ; Humans ; Incidence ; Magnetic Resonance Imaging ; Malformations of Cortical Development* ; Seizures*

PURPOSE: Cortical dysplasia is known to be of variety of MR imaging findings. We attempted to classify MR imaging findings of cortical dysplasia into several types and to correlate those with histopathologic grades and subtypes. MATERIALS AND METHODS: Preoperative MR images of 97 patients with pathologically-proven cortical dysplasia were retrospectively reviewed with knowledge of the diagnosis and operative sites. The patients were divided into MR- positive and MR-negative groups based on the presence or absence of MR imaging abnormalities. In MR-positive group, MR imaging features were arbitrarily classified into four types (atrophic, cortical-band, inward-rounding, and nonspecific types) on the basis of size of the gyrus and adjacent CSF space, cortical thickness, signal intensity of the subcortical white matter, and blurring of the gray-white matter junction. The pathologic findings were also retrospectively reviewed without knowledge of MR imaging findings and divided into three grades (mild, moderate, and severe) and two subtypes (nonballoon-cell and balloon-cell). Pathologic grades and subtypes were compared between MR-positive and MR-negative groups. Four MR types of the MR-positive group were correlated with the pathologic grades and subtypes. RESULTS: MR-positive and MR-negative groups consisted of 39 (40%) and 58 (60%) patients, respectively . Of the MR-positive group, atrophic type was seen in 13 patients (33%), corticalband type in 9 (23%), inward-rounding type in 9 (23%), and nonspecific type in 8 (21%). There was no significant difference in the pathologic grades between MR-positive and MR-negative groups, although MR-positive group tended to have higher pathologic grades than MR-negative group did. Balloon-cell subtype was found significantly higher in MR-positive group than in MRnegative group (p<0.05): 21% (8/39) versus 5% (3/58). The inward-rounding type corresponded to the pathologically severe grade and balloon-cell subtype in 78% (7/9) and 56% (5/9) of the patients, respectively, while the atrophic type to the mild grade and nonballoon-cell subtype in 77% (10/13) and 100% (13/13), respectively. CONCLUSION: A variety of MR imaging abnormalities were found in 40% of the patients with cortical dysplasia and those were classified into four types (atrophic, cortical-band, inwardrounding, and nonspecific types), of which the inward-rounding type correlated well with the pathologically severe grade and balloon-cell subtype, whereas the atrophic type with the mild grade and nonballoon-cell subtype.
Brain* ; Diagnosis ; Humans ; Magnetic Resonance Imaging* ; Malformations of Cortical Development* ; Retrospective Studies

Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.
Biopsy ; Brain ; Creatine Kinase ; Diagnosis ; Japan ; Magnetic Resonance Imaging* ; Malformations of Cortical Development ; Muscle Hypotonia ; Muscular Dystrophies ; Walker-Warburg Syndrome*

OBJECTIVE: To explore the genetic basis for a fetus with dysgenesis of corpus callosum and other brain malformations. METHODS: Whole exome sequencing was carried out for the fetus and its parents. Suspected pathogenic variants were verified by Sanger sequencing. RESULTS: A novel de novo missense variant c.758T>A (p.L253Q) of the TUBB2B gene was identified, which was unreported previously. Based on the guidelines from the American College of Medical Genetics, the c.758T>A variant was predicted to be likely pathogenic. Bioinformatics analysis predicted that the leucine at position 253 was highly conserved among various species, and the c.758T>A variant may impact the formation of hydrogen bonds between Leu253 and Asp249 and Met257 residues, which in turn may affect the combination of GTP/GDP and function of the TUBB2B protein. CONCLUSION The c.758T>A variant of the TUBB2B gene probably underlay the fetal malformations in this Chinese family. Above discovery has enriched the spectrum of TUBB2B gene variants and provided a basis for genetic counseling and prenatal diagnosis.
Brain ; Female ; Fetus/abnormalities* ; Humans ; Malformations of Cortical Development/genetics* ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Whole Exome Sequencing

Septo-optic dysplasia is diagnosed when optic nerve hypoplasia is combined with dysgenesis of the septum pellucidum and nearly two-thirds of them have hypothalamic-pituitary dysfunction. A number of these patients have schizencephaly and usually present seizures. The migrational disorders including schizencephaly, lissencephaly, heterotopia and polymicrogyria are a rare group of congenital malformations of the brain Septo-optic dysplasia-schizencephaly complex is frequently associated with endocrinolo gic, ophthalmologic, and neurologic symptoms and signs. We recently experienced a case of septo-optic dysplasia-schizencephaly, who showed severe visual impairment associated nystagmus and bilateral optic nerve hypoplasia agenesis of septum pellucidum with schizencephaly and hypsarrythmia. Because some forms of migrational disorders and septo-optic dysplasia can be inherited, parental counseling is essential for the accurate diagnosis.
Brain ; Counseling ; Diagnosis ; Humans ; Lissencephaly ; Malformations of Cortical Development ; Neurologic Manifestations ; Optic Nerve ; Parents ; Seizures ; Septo-Optic Dysplasia ; Septum Pellucidum ; Vision Disorders

Schizencephaly is an unusual condition rarely detected antenatally. It is a neuronal migrational disorder consisting of clefts in the brain that communicate with the lateral ventricles. The etiology and the pathogenesis is not clearly estabilished. While some authors advocate a vascular insult with a secondary effect on brain development, others suggest a primary cerebral dysgenesis by genetic or acquired factors. The importance of making an accurate antenatal diagnosis is that the outcome for schizencephaly in considerably poor than for other causes of ventriculomegaly. Typical symtoms include seizures, mental retardation, spastic tetraplagia and blindness. We report a case of typeIIschizencephaly that was diagnosed antenatally in the third trimester with a brief reiew of literatures.
Blindness ; Brain ; Female ; Humans ; Intellectual Disability ; Lateral Ventricles ; Malformations of Cortical Development* ; Muscle Spasticity ; Neurons ; Pregnancy ; Pregnancy Trimester, Third ; Prenatal Diagnosis ; Seizures

OBJECTIVE: To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities. Contributing factors for improved lesion conspicuity of the initially overlooked potential epileptogenic lesions were analyzed and classified into lesion factors and imaging factors. RESULTS: Repeat MRI was positive in 21% (55/257) and negative in 79% cases (202/257). Of the positive results, potential epileptogenic lesions comprised 49% (27/55) and other abnormalities comprised 11% of the cases (28/257). Potential epileptogenic lesions included focal cortical dysplasia (n = 11), hippocampal sclerosis (n = 10), polymicrogyria (n = 2), heterotopic gray matter (n = 2), microlissencephaly (n = 1), and cortical tumor (n = 1). Of these, seven patients underwent surgical resection. Contributing factors for new diagnoses were classified as imaging factors alone (n = 6), lesion factors alone (n = 2), both (n = 18), and neither (n = 1). CONCLUSION: Repeat MRI revealed positive results in 21% of the children with initial MRI-negative focal epilepsy, with 50% of the positive results considered as potential epileptogenic lesions. Enhanced MRI techniques or considering the chronological changes of lesions on MRI may improve the diagnostic yield for identification of potential epileptogenic lesions on repeat MRI.
Brain* ; Child* ; Diagnosis ; Epilepsies, Partial* ; Ethics Committees, Research ; Gray Matter ; Humans ; Informed Consent ; Magnetic Resonance Imaging* ; Malformations of Cortical Development ; Microcephaly ; Polymicrogyria ; Retrospective Studies ; Sclerosis

PURPOSE: The diagnosis of cortical dysplasia(CD) and microdysgenesis(MD) is valuable because they often cause childhood intractable epilepsy. This study is to analyze clinical manifestations, EEG findings, and imaging features based on the pathologic diagnosis(cortical dysplasia and microdysgenesis) in childhood intractable epilepsy with surgical treatment. METHODS: We performed retrospective studies and analyzed 27 patients with MCD diagnosed by pathologic findings after brain lobectomy for intractable epilepsy from October 2003 to September 2006 in our hospital. We compared their clinical characteristics, EEGs, neuroimaging studies including MRI, and FDG-PET. We analyzed the locations of malformations of cortical development(MCD). The surgical outcomes were reviewed. RESULTS: There were no pathognomonic seizure types or EEG findings for microdysgenesis. The clinical and EEG features of microdysgenesis were similar to those of cortical dysplasia. Only 6(37 percent) out of 16 microdysgenesis patients showed normal MRI findings and also 2(18 percent) out of 10 cortical dysplasia patients showed normal MRI findings. The most common location of MCD was frontal lobe in both of the groups, followed by temporal lobe. 10(63%) out of 16 microdysgenesis patients and 9 (90%) out of 10 cortical dysplasia patients became seizure free. The locations of MCD was not related to the prognosis of the outcomes. All the patients who had had developmental delay showed improvement in development after the surgery. CONCLUSION: There were no significant differences in gender, seizure onset age, duration of seizures, seizure types, EEG findings, and MCD locations between CD and MD. The seizure outcomes were better in CD than in MD. All the patients whose pre- and post-oprative developmental status were compared showed developmental improvement.
Age of Onset ; Brain ; Child* ; Diagnosis ; Electroencephalography ; Electrophysiology* ; Epilepsy* ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Malformations of Cortical Development* ; Neuroimaging* ; Prognosis ; Retrospective Studies ; Seizures ; Temporal Lobe