Congenital Bilateral Perisylvian Syndrome Research Articles

Uncommon variants of speech disorder in children: congenital bilateral perisylvian syndrome

This paper describes two cases of congenital bilateral perisylvian syndrome (CBPS), a rare disorder of late neuronal migration, which is characterized by language delay, intellectual disorders, epilepsy and bilateral perisylvian polymicrogyria. Pseudobulbar paralysis and orofacial muscles dyspraxia causing drooling and feeding difficulties are common for patients with CBPS. Communicational problems lead to low self-esteem and social maladaptation. Literature data regarding correlation between polymicrogyria topography and speech disorders and articulation impairment severity are presented. The results demonstrate the association of diffuse spreading of bilateral polymicrogyria and more severe speech disorders comparing to mild speech disorders in patients with more local polymicrogyria. Known etiology factors of this syndrome are bilateral cerebral hypoperfusion, brain damage while neuronal migration period, postmigrational vascular insults and gene mutations. Syndrome can be inherited in autosome dominant and X-linked manner. Speech apraxia with normal impressive speech, refractory epileptic seizures and status dysraphicus must be red flags for a physician regarding this syndrome. Overnight video-EEG monitoring and brain MRI confirm a thesis that this syndrome is underdiagnosed in everyday clinical practice.

MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination

The combination of congenital bilateral perisylvian syndrome (CBPS) with lower motor neuron dysfunction remains unusual and suggests a potential common genetic insult affecting basic neurodevelopmental processes. Here we identify a putatively pathogenic missense mutation in the MCF2 gene in a boy with CBPS. Using in utero electroporation to genetically manipulate cortical neurons during corticogenesis, we demonstrate that the mouse Mcf2 gene controls the embryonic migration of cortical projection neurons. Strikingly, we find that the CBPS‐associated MCF2 mutation impairs cortical laminar positioning, supporting the hypothesis that alterations in the process of embryonic neuronal migration can lead to rare cases of CBPS.

Congenital bilateral perisylvian syndrome: a rare cause of epilepsy

Congenital bilateral perisylvian syndrome (CBPS) is an entity proven or diagnosed on basis of neuroimaging in the form of MRI (Magnetic Resonance Imaging). A case with classical triad of fascio- masticatory diplegia, epilepsy and mental retardation has been seen. We report a case of a 6 years old male child on intermittent treatment for seizures since 6 months presenting to us with abnormal movement, recurrent spitting and drooling of saliva with slurring of speech. Diagnosed on MRI with involvement of perisylvian location in temporal lobe. The etiology of epilepsy was justified and symptomatically treated.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

SUMMARYBackgroundBilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment and epilepsy. BPP is etiologically heterogeneous, but only a few genetic causes have been reported. The aim of this study was to identify additional genetic etiologies of BPP and delineate their frequency in this patient population.MethodsWe performed child-parent (trio)-based whole exome sequencing (WES) on eight children with BPP. Following the identification of mosaic PIK3R2 mutations in two of these eight children, we performed targeted screening of PIK3R2 in a cohort of 118 children with BPP who were ascertained from 1980 until 2015 using two methods. First, we performed targeted sequencing of the entire PIK3R2 gene by single molecule molecular inversion probes (smMIPs) on 38 patients with BPP with normal-large head size. Second, we performed amplicon sequencing of the recurrent PIK3R2 mutation (p.Gly373Arg) on 80 children with various types of polymicrogyria including BPP. One additional patient underwent clinical WES independently, and was included in this study given the phenotypic similarity to our cohort. All patients included in this study were children (< 18 years of age) with polymicrogyria enrolled in our research program.FindingsUsing WES, we identified a mosaic mutation (p.Gly373Arg) in the regulatory subunit of the PI3K-AKT-MTOR pathway, PIK3R2, in two children with BPP. Of the 38 patients with BPP and normal-large head size who underwent targeted next generation sequencing by smMIPs, we identified constitutional and mosaic PIK3R2 mutations in 17 additional children. In parallel, one patient was found to have the recurrent PIK3R2 mutation by clinical WES. Seven patients had BPP alone, and 13 had BPP in association with features of the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH). Nineteen patients had the same mutation (Gly373Arg), and one had a nearby missense mutation (p.Lys376Glu). Across the entire cohort, mutations were constitutional in 12 and mosaic in eight patients. Among mosaic patients, we observed substantial variation in alternate (mutant) allele levels ranging from 2·5% (10/377) to 36·7% (39/106) of reads, equivalent to 5–73·4% of cells analyzed. Levels of mosaicism varied from undetectable to 17·1% (37/216) of reads in blood-derived compared to 29·4% (2030/6889) to 43·3% (275/634) in saliva-derived DNA.InterpretationConstitutional and mosaic mutations in the PIK3R2 gene are associated with a spectrum of developmental brain disorders ranging from BPP with a normal head size to the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. The phenotypic variability and low-level mosaicism challenging conventional molecular methods have important implications for genetic testing and counseling.

Voxel-based morphometry and intellectual assessment in patients with congenital bilateral perisylvian syndrome.

Congenital bilateral perisylvian syndrome (CBPS) presents with heterogeneous clinical manifestations such as pseudobulbar palsy, language disorder, variable cognitive deficits, epilepsy, and perisylvian abnormalities (most frequently polymicrogyria) on imaging studies. We investigated the relationship between seizures and extent of gray matter (GM) and white matter (WM) abnormalities using voxel-based morphometry (VBM) of brain magnetic resonance imaging (MRI) as well the association between seizures, structural abnormalities and cognitive ability. In this cross-sectional study, we evaluated 51 healthy volunteers and 18 patients with CBPS with epilepsy (seizure group, n=7) and without (non-seizure group, n=11). We used VBM (SPM8/DARTEL) to investigate areas with excess and atrophy of both gray and white matter, comparing groups of patients with controls. Intellectual ability of patients was assessed by the WISC-III or WAIS-III. Both groups with CBPS and the control group were homogeneous with respect to gender (p=0.07) and age (p=0.065). Besides perisylvian polymicrogyria, the seizure group exhibited areas with GM and WM reduction including temporal, frontal, parietal and occipital lobes. In contrast, we identified fewer areas with GM and WM reduction in the non-seizure group. The seizure group presented worse intellectual performance (performance IQ and global IQ) than the non-seizure group. The seizure group presented with a more widespread pattern of cortical and sub-cortical abnormalities, as well as worse cognition. Our results suggest that patients with CBPS and epilepsy appear to have widespread neuronal damage that goes beyond the areas with MRI-visible perisylvian polymicrogyria.

Congenital Bilateral Perisylvian Syndrome: A Case Report

Summary Congenital bilateral perisylvian syndrome (CBPS) is a congenital neuronal migration disorder characterized by epilepsy, pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities at brain imaging. We report a case of a 44-year-old male admitted with refractory seizures and drop attacks and diagnosed with CBPS after detailed history, neurological examination and magnetic resonance imaging (MRI) findings. The patient had been suffering from seizures since the age of 13. He had generalized tonic-clonic seizures once a month and tonic/ atonic drop attacks repeating daily in spite of antiepileptic drug therapy. Neurological examination showed pyramidal signs, predominantly on the right side, pseudobulbar paresis and mild cognitive impairment. Interictal electroencephalogram (EEG) revealed bilateral frontotemporal sharp-slow wave discharges. MRI revealed bilateral perisylvian local cortical thickening and polymicrogyria. Patients with refractory seizures should undergo detailed investigation, including brain imaging for the possibility of having a specific syndrome. Intractable seizures, pseudobulbar signs and mental retardation suggest the diagnosis of CBPS. Brain MRI plays an important role in the diagnosis of this syndrome.

Congenital bilateral perisylvian syndrome with hydrocephalus

Congenital bilateral perisylvian syndrome (CBPS), which is seen by indications of mental retardasyon, epilepsi, speech disorder and pseudobulbar palsy, is a disease which comes up with genetic and non-genetic reasons. Revealing characteristic indications (like polymicrogyria) with MR imaging and clinic indications contributes making diagnosis. In present paper, we aimed to present 18 month girl case report who diagnosed as CBPS with hydrocephali indication.

Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin

We describe a rare case of multiple intestinal atresias, congenital bilateral perisylvian polymicrogyria, and chronic pulmonary hypertension in a surviving monochorionic twin with co-twin demise. This constellation of congenital anomalies represents a multiple vascular disruption syndrome due to intrauterine vascular compromise in the setting of possible twin-to-twin transfusion syndrome.

Anterior corpus callosotomy combined with anterior temporal resection with amygdalohippocampectomy: outcome in a patient with congenital bilateral perisylvian syndrome

Congenital bilateral perisylvian syndrome (CBPS) is characterized by epilepsy, cognitive deficits, pseudobulbar palsy and diplegia of the facial, pharyngeal and masticatory muscles. Epilepsy has been described in nearly 90% of affected patients. The epilepsy is usually severe and pharmacoresistant in about 55 percent of CBPS patients. Until now, only 12 cases of surgical treatment on CBPS have been reported; the surgical treatment is usually corpus callosotomy. In this paper, we describe a previously unreported combination of anterior corpus callosotomy plus anterior temporal lobectomy with amygdalohippocampectomy for a patient with CBPS, resulting in a satisfactory clinical outcome. Based on this case, we suggest that palliative focal resective surgery combined with anterior corpus callosotomy should be considered when a predominance of the epileptiform discharges suggests focal onset in patients with CBPS. Meanwhile, the clinical decision to adopt this combination surgery must be based on a thorough pre-surgical evaluation, and should take into account the clinical, radiological, and EEG features.

P27.5 Congenital bilateral perisylvian syndrome, which developed after the intrauterine death of the co-twin

P27.5 Congenital bilateral perisylvian syndrome, which developed after the intrauterine death of the co-twin

Arcuate Fasciculus and Speech in Congenital Bilateral Perisylvian Syndrome

Standard magnetic resonance imaging can diagnose congenital bilateral perisylvian polymicrogyria, but is limited in explaining the heterogeneous clinical spectrum of the related congenital bilateral perisylvian syndrome, characterized by pseudobulbar dysfunction, developmental delay, and epilepsy. We analyzed arcuate fasciculi using diffusion tensor imaging, a major language tract in the perisylvian region interconnecting the Broca and Wernicke areas, and at high risk of becoming developmentally affected in this condition. Six patients with congenital bilateral perisylvian syndrome underwent diffusion tensor imaging and were evaluated. The arcuate fasciculus was manually isolated, using tractography. The tract was identified in three patients who had developed speech, and whose values for various diffusion parameters were similar to those in age-matched controls (patients/controls means: fractional anisotropy, 0.50/0.52; apparent diffusion coefficient, 0.0022/0.0022 mm(2)/second; P = ns for both). However, in three patients with severe impairment and no speech development, the arcuate fasciculus could not be identified by fiber-tracking. In this small series, the absence of arcuate fasciculi on diffusion tensor imaging correlated with a more severe phenotype, which cannot be appreciated via structural magnetic resonance imaging alone.

Multiple intestinal atresia and congenital bilateral perisylvian syndrome in a surviving monochorionic twin with intrauterine death of the co-twin

This report presents a case of a surviving monochorionic twin with multiple intestinal atresia and congenital bilateral perisylvian syndrome, which developed after the intrauterine death of the cotwin. The pathology of the placenta demonstrated vein-to-vein communication between the twins and multiple intravascular thrombi in the dead cotwin.

Agenesis of the Arcuate Fasciculi in Congenital Bilateral Perisylvian Syndrome

To describe the absence of the arcuate fasciculi in 2 cases of congenital bilateral perisylvian syndrome (CBPS). Case series. Pediatric referral hospital-based study. Two patients with CBPS, referred to our institution as candidates for surgical treatment of epilepsy. Intervention Diffusion tensor imaging (1.5-T scanner; 15 encoding directions; b = 800 s/mm(2)) and deterministic tractography of the main projection and association tracts. Neuropsychology evaluation; fractional anisotropy, apparent diffusion coefficients, and anatomical aspect of the tracts. Absence of the arcuate fasciculus was observed in both subjects. Ancillary findings were complete absence of the superior longitudinal fasciculi in 1 case and underdevelopment in the other. Low fractional anisotropy of the left inferior occipitofrontal fasciculus was found in both cases. The same tract was maloriented in 1 of the cases. Agenesis of the arcuate fasciculus may accompany CBPS.

Congenital bilateral perisylvian syndrome as a rare clinicoradiological entity: a case report

Abstract Congenital bilateral perisylvian syndrome (CBPS) is a recently described syndrome that includes developmental delay, variable cognitive deficits, prominent cortical pseudobulbar symptoms, and variable pyramidal signs. Seizures are common, and imaging studies are characteristic examinations. The underlying pathology is polymicrogyria. Polymicrogyria may have a focal or regional distribution or involve the whole cortical mantle. Females are affected more often than males. The sylvian fissures often extend more vertically at their posterior extent into the parietal lobes. The abnormality is usually symmetric. In this paper, we present a case of CBPS, and discuss the clinical and radiologic characteristics of this rare condition. Keywords: Perisylvian polymicrogyria, developmental abnormalities, magnetic resonance imaging Ozet Konjenital bilateral perisilviyan sendrom (KBPS), gelisme geriligi, degisik bilissel bozukluklar, belirgin kortikal psodobulber semptomlar ve piramidal bulgular ile karakterize, son yillarda tanimlanmis bir durumdur. Nobet sik gorulen bir bulgu olup goruntuleme calismalari karakteristiktir. Altta yatan patoloji, polimikrogiridir. Polimikrogiri, fokal veya bolgesel dagilim gosterebilir veya tum kortikal mantoyu etkileyebilir. Kadinlar, erkeklerden daha sik etkilenmektedir. Silviyan fissurler daha vertikal seyirli olarak pariyetal loblara dogru uzanmaktadir. Anomali siklikla simetriktir. Bu yazida, KBPS’li bir olguyu klinik ve radyolojik ozelliklerini tartisarak ortaya koyuyoruz. Anahtar sozcukler: Perisilviyan polimikrogiri, gelisimsel anomaliler, manyetik rezonans goruntuleme

Congenital polymicrogyria including the perisylvian region in early childhood

Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying disorders in two cases, namely Kabuki syndrome and Peters' anomaly. In the other four cases, the pathogenetic etiology was not elucidated. Subtle symptoms, such as choking and drooling became detectable in one case each, and expressive language development was delayed in two patients. A developmental delay became apparent in five cases during the follow-up period, and epilepsy was observed in one patient with onset at 12 years of age. Our results indicate that the presence of perisylvian polymicrogyria may not always result in the development of oropharyngoglossal dysfunction or dysarthria, although most patients tend to gradually show the onset of developmental disorders. To support cognitive and psychosocial development, an early integrated approach, including not only conventional speech and language therapy, but also various communication methods is essential for patients with congenital polymicrogyria including the perisylvian region.

Congenital Perıslyvian Syndrome; Report Of Three Cases

Congenital perisylvian syndrome is a rare neurological disorder characterized by pseudobulbar palsy, cognitive deficits, epilepsy associated with bilateral perisylvian cortical dysplasia on magnetic resonance imaging. We herein report three cases with congenital bilateral perisylvian syndrome who presented with psychomotor retardation, speech delay and feeding difficulty because of the rarity of the syndrome.

Treatment of epilepsy in severely disabled children with bilateral brain malformations

To determine a management strategy for the epilepsy in children with bilateral cortical malformations, clinical data of 23 patients (age, 3–23 years, M:F=7:16) were retrospectively reviewed. Among these patients, 15 were bedridden and 16 were profoundly retarded and could not even smile. The patients were categorized into the following five groups based on the findings of neuroimaging, seizure types, and electroencephalographic patterns. Group 1: Diffuse cortical malformation with epileptic spasms and secondarily generalized tonic seizures, group 2: diffuse cortical malformation with erratic twitches, group 3: bilaterally extended but not diffuse cortical malformations, group 4: bilateral polymicrogyria with persistent epileptic spasms (Aicardi syndrome), and group 5: bilateral cortical malformation with drop attacks (subcortical band heterotopia and congenital bilateral perisylvian syndrome). Eleven patients suffered from infantile spasms; adrenocorticotropic hormone was effective in group 1 but ineffective in group 4. Treatment of tonic seizures in groups 1–3 and erratic twitching in group 3 with phenobarbital, zonisamide and potassium bromide was beneficial. Epileptic spasms and tonic seizures were prominent in group 4 and were refractory to medical treatment, except that zonisamide, clobazam, and a ketogenic diet were partially or transiently effective. Complex partial and astatic/atonic seizures in group 5 were refractory to medications other than that carbamazepine and clobazam provided limited benefits. Total callosotomy resulted in better seizure control for three patients in group 5, and functional hemispherectomy was effective for one patient in group 4. These results provide the basis for the appropriate choice of medical and surgical treatment for managing bilateral, widespread cortical malformations.

Electroclinical and Magnetoencephalographic Analysis of Epilepsy in Patients With Congenital Bilateral Perisylvian Syndrome

EpilepsiaVolume 41, Issue 1 p. 1584-1591 Free Access Electroclinical and Magnetoencephalographic Analysis of Epilepsy in Patients With Congenital Bilateral Perisylvian Syndrome First published: 19 September 2008 https://doi.org/10.1111/j.1528-1167.2000.01584.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Volume41, Issue1December 2000Pages 1584-1591 RelatedInformation

Congenital Bilateral Perisylvian Syndrome: Familial Occurrence, Clinical and Psycholinguistic Aspects Correlated with MRI

Congenital bilateral perisylvian syndrome (CBPS) is frequently caused by polymicrogyria (PMG). The aim of this study was to correlate the clinical and psycholinguistic aspects with neuroradiological data of patients with CBPS. Thirty-one patients were studied. We performed a clinical investigation of the patients and their families, including MRI scanning, neuropsychological tests and language evaluation. The statistical analysis showed that: a) prenatal events are associated with the non-familial type of PMG; b) diffuse PMG is associated with pseudobulbar signs, as opposed to BPPP; c) motor deficit is associated with diffuse PMG; d) epilepsy is equally present in patients with both familial or non-familial PMG, but is more frequently seen in patients with diffuse PMG; e) dyslexia and SLI can be a feature of both the diffuse or BPPP, and either familial or sporadic cases of PMG. The severity of clinical manifestations in CBPS is correlated with the extent of cortical involvement. Most patients with CBPS have a history of speech delay or language difficulties and no epilepsy. Dyslexia can be found in patients with PMG.

Worster-Drought Syndrome with Ectopic Neurohypophysis and Pituitary Hypoplasia

Worster-Drought syndrome (WDS) (congenital bilateral perisylvian syndrome, congenital pseudobulbar paresia) is characterized by neuronal migration defect, pseudobulbar paralysis, epilepsy, neuromotor retardation and perisylvian dysplasia. Pituitary abnormalities are rare disorders. We describe one case with an interesting association of congenital bilateral perisylvian syndrome with pituitary hypoplasia and posterior pituitary ectopia.