The clinicopathological spectrum of focal cortical. Focal cortical dysplasia fcd forms a very heterogeneous group of cortical lesions. Focal cortical dysplasia type i is a malformation presenting with abnormal cortical layering, either compromising radial migration and maturation of neurons fcd type ia or the 6layered tangential composition of the neocortex fcd type ib. Focal cortical dysplasias in autism spectrum disorders acta.
Focal cortical thickening classified in slight, moderate or severe cortical thickening 7 mm 2. Focal cortical dysplasia congenital abnormality ucla. Magnetic resonance imaging is the diagnostic technique of choice in the presurgical evaluation of patients with refractory epilepsy. Malformations of cortical development mcds are defined in their broadest sense as malformative lesions of the cortex resulting from derangements of normal processes that take place during the first two trimesters of human pregnancy and involve cells that, under normal circumstances, participate in the formation of the cortical mantle. Focal cortical dysplasia fcd, which is often associated with intractable epilepsy, is a form of abnormal structure of the cerebral cortex caused by a disorder of normal neocortical development. Focal cortical dysplasia fcd covers a spectrum of con.
Clinical presentation is variable, and depends on age of onset of seizures and the location and size of lesion. Pdf diagnostic methods and treatment options for focal cortical. The 54 patients with lowgrade glial neoplasms were compared with the eight patients. Focal cortical dysplasia fcd lesion analysis with complex. Cortical gray white matter blurring and cognitive morbidity. If i understand correctly, the results showed she was a high risk for seizure activity. Twenty patients were evaluated prospectively between 2007 and 2010 with comprehensive clinical evaluation, videoelectroencephalography. Small focal cortical dysplasia lesions are located at the. The term fcd designates a spectrum of histological abnormalities of the laminar. Focal cortical dysplasia fcdlesion analysis with complex diffusion approach identification of focal cortical dysplasia fcd can be difficult due to the subtle mri changes. Malformations of cortical development are a frequent cause of symptomatic focal epilepsy in childhood and adulthood. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Focal cortical dysplasia fcd is probably the most common form of focal developmental disorder diagnosed in patients with intractable focal epilepsy. Other times, the affected area of the brain can be larger than the abnormality revealed by the mri, which can be a possible cause of poor outcomes if surgery is based on the mri data alone.
Malformations of cortical development, especially focal cortical dysplasia in infants and children, and hippocampal sclerosis in adolescents with epilepsy are frequent lesions, but they are overlooked on standard mri. Diagnostic methods and treatment options for focal cortical. Pdf our inability to adequately treat many patients with refractory epilepsy caused by focal cortical dysplasia fcd, surgical inaccessibility. Mr imaging, histopathologic, and clinical correlations in surgically treated patients with epilepsy nadia colombo, laura tassi, carlo galli, alberto citterio, giorgio lo russo, giuseppe scialfa, and roberto spreafico background and purpose. Convulsive seizures from experimental focal cortical. Focal cortical dysplasia mimicking neoplasia practical. The international league against epilepsy ilae diagnostic manuals goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and if possible the etiology of the epilepsy. Therefore, the patient was brought back to surgery for a second resection. Epileptic spasms may occur and may be the presenting seizure type. Taylortype focal cortical dysplasia fcd taylor et al. Focal cortical dysplasia type ii is common among epilepsy surgical series and is a major cause of antiepileptic drugresistantepilepsy. Mammalian target of rapamycin pathway mutations cause. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. Methods we examined 10 clinical and 19 mr imaging variables in patients who underwent surgery for intractable epilepsy over an 8year period.
Focal cortical dysplasia fcd is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the secondthird most common etiology of medically intractable seizures in adults. Focal means that it is limited to a focal zone in any lobe. Pdf diagnostic methods and treatment options for focal. Sod and an associated malformation of cortical development. Fcd syndromes, including pretzel syndrome, autosomal dom inant temporal lobe epilepsy and cortical dysplasia, and familial focal epilepsy with variable foci. Nov 23, 2011 focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the secondthird most common etiology of medically intractable seizures in adults. Focal cortical dysplasia type ii fcdii is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and. Woermann, gilbert vezina, in handbook of clinical neurology, 20. Septooptic dysplasia the authors describe three children.
In particular, focal cortical dysplasia fcd is increasingly recognized in epilepsy patients owing to improved mri techniques including postprocessing of 3d. Purpose to test the hypothesis that focal cortical dysplasia of taylor fcdt can be distinguished from lowgrade tumors by means of clinical and mr findings. The imaging features and clinical scenario are suggestive of focal cortical dysplasia. Malformation of cortical development mcd is a well known cause of drugresistant epilepsy and focal cortical dysplasia fcd is the. Focal cortical dysplasias fcds are highly epileptogenic brain lesions and are a frequent cause for drugresistant focal epilepsies in humans. Focal cortical dysplasia, no seizures epilepsy foundation. Cortical dysplasia is a rare brain malformation that results in multiple life challenges such as hemiparesis cerebral palsy on half of the body, and seizures.
Focal malformations of cortical development, including focal cortical dysplasia fcd and hemimegalencephaly hme, are important causes of intractable childhood epilepsy. Barr1, matija snuderl2, werner doyle1, orrin devinsky1 and thomas thesen1 1comprehensive epilepsy center, department of neurology, new york universityschool ofmedicine, new york 10016, usa and 2department of pathology, new york university school of. Cortical dysplasia definition of cortical dysplasia by. Blurring of junction cortical grey mattersubcortical white matter on 3d irprepped high resolution t1weighted sequences 3. In general, there are three pathological subtypes of cortical dysplasia that are recognized. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care.
The pathologic substrates underlying pharmacoresistent epilepsy have been well described and most commonly involve hippocampal sclerosis in patients with temporal lobe epilepsy, focal cortical dysplasia, remote infarctscontusional damage, and neoplasms. The focal cortical dysplasia was marked by the presence of dysmorphic neurons and an absence of balloon cells. Twenty patients were evaluated prospectively between 2007 and 2010 with comprehensive clinical evaluation, videoelectroencephalography, diffusion tensor. Focal cortical dysplasia fcd type ii is an important cause of drugresistant epilepsy. The most common classification used until recently was the histopathological system proposed by palmini et al. Contemporary neurological focal cortical dysplasia. Focal cortical dysplasia fcd is a malformation of cortical development that is associated with high rates of cognitive morbidity. Often the patients do not start having seizures until they are. Some classification systems for focal cortical dysplasia have been devised over the years since the first description in 1971 by taylor et al. Cilio suggested that patients with intractable seizures should be considered as surgical candidates early, before putative secondary circuits are.
Cortical dysplasia an overview sciencedirect topics. Focal cortical dysplasias in autism spectrum disorders. May 01, 2020 pubmed is a searchable database of medical literature and lists journal articles that discuss focal cortical dysplasia of taylor. Cortical graywhite matter blurring and cognitive morbidity in focal cortical dysplasia karen blackmon1, ruben kuzniecky1, william b. Cortical dysplasia occurs when the top layer of the brain does not form properly. There are three types of fcd with subtypes, including type 1a, 1b, 2a, 2b, 3a, 3b, and 3c, each with distinct histopathological features. Focal cortical dysplasia with dysmorphic cells and balloon cells patient did well, but several weeks later, her seizures returned and were similar as before. In this study we identified areas of abnormal cortical thinning within the cerebral cortex of asd individuals and examined the same for neuronal morphometric abnormalities by using computerized image analysis. Coexistent ganglioglioma, focal cortical dysplasia, and. Previous reports indicate the presence of histological abnormalities in the brains of individuals with autism spectrum disorders asd suggestive of a dysplastic process. It is more common in extratemporalareas, particularly in the frontal lobe, and is typically seen on preoperative mri scans.
Thisstudyinvestigates the relationship between blurring of the cortical gray and. Clinical characteristics in focal cortical dysplasia oxford academic. Focal or regional cortical thickening poor graywhite matter differentiation increased subcortical signal intensity on t2weighted and fluidattenuated inversionrecovery flair sequences abnormal gyral anatomy development include. Pubmed is a searchable database of medical literature and lists journal articles that discuss focal cortical dysplasia of taylor. Pdf focal cortical dysplasias fcds are highly epileptogenic brain lesions and are a frequent. Malformations of cortical development miya bernson, hmsiii and gillian lieberman, md department of radiology beth israel deaconess medical center. Clinical characteristics in focal cortical dysplasia.
Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the secondthird most common etiology of medically intractable seizures in adults. Focal cortical dysplasia fcdlesion analysis with complex. The aim of this study was to identify the mr features of histologic subtypes of fcd that would be useful for differential diagnosis. The combination of both variants will be classified as fcd type ic. Focal to bilateral tonicclonic seizures can occur, these may have focal features referable to the location of the focal cortical dysplasia if this information. Focal cortical dysplasia mimicking neoplasia anuj bahl,1 charles a j romanowski,2 paul g ince,3 fiona m mckevitt,4 david a jellinek1 additional material is published online only. Cell injury and premature neurodegeneration in focal. Though sequences like flair fluid attenuated inversion recovery can detect a large majority of these lesions, there are smaller lesions without signal changes that can.
There are both genetic and acquired factors that are involved in the development of cortical dysplasia. Focal cortical dysplasia type ii fcord2, or focal cortical dysplasia of taylor fcdt, is a cerebral developmental malformation that results in a clinical phenotype of. Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of. I take it that this is the result of a pap smear and requires followup by your physician as this may show some abnormal cells that could be the precursor of a possible serious condition. Focal seizures are usually the initial seizure type, with features referable to the location of the focal cortical dysplasia. The right parietal cortex shows a focal area of thickened cortex with blurring of the greywhite matter junction and abnormal increased signal on t2 and flair sequences consistent with dysplastic cortex. Brain somatic mutations in mtor cause focal cortical. Focal cortical dysplasia radiology reference article. Focal cortical dysplasia fcd is a wellrecognised cause of epilepsy. All three children had developmental delay, and two of the children. Focal cortical dysplasia of taylor, balloon cell subtype. Focal cortical dysplasia type iia is characterized by dysmorphic and cytomegalic. After the mri, she has been diagnosed with focal cortical displasia on the right frontal. Gupta2 1 medical imaging research group, nest, technopark, trivandrum, india 2 dept.
In most patients who undergo surgical resection, an imaging abnormality or pathologic abnormality is identified. Focal cortical dysplasia of taylor genetic and rare. Diagnostic methods and treatment options for focal cortical dysplasia. Focal cortical dysplasia fcd medigoo health medical. Focal cortical dysplasia is a common cause of intractable epilepsy in children and is a frequent cause of epilepsy in adults.
The main purpose is to define more accurately the epileptogenic zone ez with noninvasive methods in those patients with mri diagnosis of focal cortical dysplasia fcd and epilepsy who are candidates of epilepsy surgery. The 54 patients with lowgrade glial neoplasms were compared with the eight patients who had. Diagnosis will have a major effect on management of this pathology as it should. Sulcal or gyral abnormal pattern including the cortical dimple cleft complex 5. Focal cortical dysplasia type ii fcdii is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy. If radiology is the study of living anatomy, then radiology of congenital anomalies. Click on the link to view a sample search on this topic.
High resolution mri in the evaluation of cerebral focal. According to the signal intensity within the pathological. Focal cortical malformations may be invisible to mri about 30 percent of patients with focal cortical dysplasia are mri negative but pet, eeg, or invasive monitoring may reveal them. If these do not have motor features, they may be difficult to detect in infants and young children. Focal cortical dysplasia, epileptogenesis, epilepsy surgery, drug resis tance, mri, eeg, pet. In infants, errors in the interpretation of mri in epilepsy can be attributed to mri. The term focal cortical dysplasia fcd describes a particular migration disorder with a symptomatology mainly characterised by drugresistant epileptic seizures. Focal to bilateral tonicclonic seizures can occur, these may have focal features referable to the location of the focal cortical dysplasia if this information is carefully sought. A 19yearold righthanded woman reported three episodes of loss of consciousness since the age of years, each preceded by lightheadedness and burning in the throat and with amnesia. Fcds present with variable histopathological patterns, including architectural, cytoarchitectural or white matter abnormalities. In particular, focal cortical dysplasia fcd is increasingly recognized in epilepsy patients owing to improved mri techniques including postprocessing of 3d data sets palmini et al. To correlate the mr features and histological data of cortical dysplasias. After being reevalutation by neuropsych, it was suggested due to having average intelligence and low memory scores that she get an mri.
Focal cortical dysplasia fcd, a local malformation of cortical development, is the most common cause of pharmacoresistant epilepsy associated with lifelong neurocognitive impairments. Mr findings in malformations of cortical development include. Focal cortical dysplasia fcd lesion analysis with complex diffusion approach jeny rajan1, k. Focal cortical dysplasia is a congenital abnormality where there is abnormal organization of the layers of the brain and bizarre appearing neurons. The neuropathology is consistent with a diagnosis of focal cortical dysplasia fcd. Identifying subtle cortical gyral abnormalities as a. New classification of focal cortical dysplasia journal of epilepsy. Focal cortical dysplasia fcd is a type of malformation of cortical development that primarily affects areas of neocortex. Focal cortical dysplasia type ii fcord2, or focal cortical dysplasia of taylor fcdt, is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. Focal and asymmetric cortical degenerative syndromes. Focal cortical dysplasia fcd is a congenital abnormality of brain development where the neurons in an area of the brain failed to migrate in the proper formation in utero. Imaging revealed residual cortical dysplasia between the two resected foci.
478 420 1146 270 718 1039 1013 1487 549 939 1588 417 135 331 190 814 278 1419 241 695 109 1067 1329 1105 579 1218 971 999 615 53 448