[perisylvian Syndrome: Report Of One Brazilian Family With Focus On The Genetic Mode Of Inheritance And Clinical Spectrum].

Perisylvian syndrome (PS) refers to a variety of clinical manifestations associated with lesions in the perisylvian or opercular region. Acquired lesions such as cerebrovascular diseases or virus encephalitis and congenital lesions such as polymicrogyria (PMG) may be implied as etiological factors. The onset of the PS may occur in early childhood. The aim of this study was to report one family with PS in order to draw attention to this rarely diagnosed entity. Our family has five affected patients, three children and two male adults. All of them had developmental language disorder. Epilepsy, motor deficit and pseudobulbar signs (such as drooling) were detected in one child who had diffuse PMG along the Sylvian fissure. Subtle clinical manifestations correlated with either subtle MRI findings or normal MRI. Most reported families provide evidence suggestive of X-linked transmission. However, the most likely mode of inheritance in our family is autosomal dominant, since a male to male transmission was documented.63459-6

A New Candidate Locus For Bilateral Perisylvian Polymicrogyria Mapped On Chromosome Xq27.

Polymicrogyria (PMG) is characterized by an excessive number of small and prominent brain gyri, separated by shallow sulci. Bilateral perisylvian polymicrogyria (BPP) is the most common form of PMG. Clinical signs include pseudobulbar paresis, mental retardation, and epilepsy. Familial forms of BPP have been described and a candidate locus was previously mapped to chromosome Xq28, distal do marker DXS8103. The objective of this study was to perform linkage analysis in one family segregating BPP. A total of 15 individuals, including 8 affected patients with BPP were evaluated. Family members were examined by a neurologist and subjected to magnetic resonance imaging scans. Individuals were genotyped for 18 microsatellite markers, flanking a 42.3 cM interval on ch Xq27-q28. Two-point and multipoint linkage analysis was performed using the LINKAGE package and haplotype reconstruction was performed by GENEHUNTER software. Our results showed a wide spectrum of clinical manifestations in affected individuals with BPP, ranging from normal to mild neurological abnormalities. Two-point linkage analysis yield a Zmax = 2.06 at theta = 0.00 for markers DXS1205 and DXS1227. Multipoint lod-scores indicate a candidate interval of 13 cM between markers DSXS1205 and DXS8043, on ch Xq27.2-Xq27.3. These results point to a new locus for BPP in a more centromeric location than previously reported.146A1151-

Síndrome peri-sylviana: estudo de uma família brasileira com ênfase na modalidade de transmissão genética e espectro clínico Perisylvian syndrome: report of one Brazilian family with focus on the genetic mode of inheritance and clinical spectrum

Síndrome peri-sylviana (SP) refere-se a diversas manifestações clínicas que podem acompanhar lesões que comprometem a região peri-sylviana ou opercular, podendo ser adquirida, como em acidentes vasculares cerebrais ou encefalites virais, ou ser congênita. A SP congênita pode se manifestar com grande variação clínica e em idades precoces. Com o advento da ressonância magnética (RM) foi possível observar a presença de polimicrogiria (PMG) na região da fissura de Sylvius em diversos pacientes com quadro clínico de SP. O objetivo do presente estudo é analisar e divulgar essa entidade raramente diagnosticada por meio da descrição de uma família. A família em questão compõe-se de cinco indivíduos acometidos, sendo o distúrbio de linguagem a manifestação mais prevalente, ou seja, presente em todos eles. Epilepsia, déficit motor e sinais pseudobulbares (como sialorréia) foram evidenciados no paciente que mostrou maior alteração à RM (PMG difusa). A paciente com PMG parietal posterior e os outros três com RM normais tiveram manifestações clínicas mais sutis. Apesar da maioria das famílias descritas até o momento apresentar transmissão ligada ao cromossomo X, a nossa família sugere transmissão autossômica dominante, já que dois meninos afetados são filhos de homens também acometidos. Os nossos dados reforçam a idéia de que a SP apresenta heterogeneidade genética.<br>Perisylvian syndrome (PS) refers to a variety of clinical manifestations associated with lesions in the perisylvian or opercular region. Acquired lesions such as cerebrovascular diseases or virus encephalitis and congenital lesions such as polymicrogyria (PMG) may be implied as etiological factors. The onset of the PS may occur in early childhood. The aim of this study was to report one family with PS in order to draw attention to this rarely diagnosed entity. Our family has five affected patients, three children and two male adults. All of them had developmental language disorder. Epilepsy, motor deficit and pseudobulbar signs (such as drooling) were detected in one child who had diffuse PMG along the Sylvian fissure. Subtle clinical manifestations correlated with either subtle MRI findings or normal MRI. Most reported families provide evidence suggestive of X-linked transmission. However, the most likely mode of inheritance in our family is autosomal dominant, since a male to male transmission was documented