[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.
Herrera
Eliane P
EP
Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Brazil.
Brandão-Almeida
Iara L
IL
Guimarães
Catarina A
CA
Oliveira
Ecila P M
EP
Montenegro
Maria Augusta
MA
Cendes
Fernando
F
Lopes-Cendes
Iscia
I
Guerreiro
Carlos A M
CA
Hage
Simone R V
SR
Guerreiro
Marilisa M
MM
D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics; D001938:Brazil; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D019305:Epilepsy, Rolandic / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008526:Medulla Oblongata; D009059:Mouth Diseases / Q000175:diagnosis / Q000235:genetics; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome