[Characterization of the linguistic profile of a family with Perisylvian Syndrome].
BACKGROUND
Perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical spectrum includes subtle language disturbances on one end and more severe characteristics such as prominent pseudobulbar signs and refractory epilepsy on the other end. Other studies have already associated perisylvian polymicrogyria with developmental language disorders or specific language impairment.


OBJECTIVE
to describe the language deficits of four members of a family with Perisylvian Syndrome, and to correlate these deficits to neuroimaging data.


METHODS
The patients underwent neuroimaging investigation, psychological assessment using the Weschler Intelligence Scales, and specific speech-language evaluation. The following tests were used for the assessment of vocabulary, phonology, syntax, pragmatics, reading and writing: Thematical Pictures of Yavas, ABFW-Child Language Test, Peabody Picture Vocabulary Test (PPVT), and other specific protocols.


RESULTS
Magnetic resonance imaging revealed perisylvian polymicrogyria in all of the subjects, with varied locations and extensions. Speech-language assessment indicated significant oral and written language deficits in all of the subjects.


CONCLUSIONS
The obtained data indicate that language impairment can co-exist with reading deficits in members of the same family. Neuroimaging findings reveal cortical alterations that are associated to specific language impairments within the spectrum of the Perisylvian Syndrome. Another important aspect evidenced by this study is the similarities in the language profiles of siblings and mother, suggesting that a variety of linguistic manifestations exist within the spectrum of the syndrome. Perisylvian polymicrogyria can be one of the neurobiological malformations involved in the manifestation of these deficits.
de Oliveira
Ecila Paula dos Mesquita
EP
Faculdade de Ciências Médicas da Universidade Estadual de Campinas. ecilapaula@uol.com.br
Guerreiro
Marilisa Mantovani
MM
Guimarães
Catarina Abraão
CA
Brandão-Almeida
Iara Lêda
IL
Montenegro
Maria Augusta
MA
Cendes
Fernando
F
Hage
Simone Rocha de Vasconcellos
SR
D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D004410:Dyslexia / Q000235:genetics; D005260:Female; D006801:Humans; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome