BACKGROUND: phonoaudiological evaluation of rare occurrence syndrome. PROCEDURES: describe the performance shown in phonoaudiological clinical evaluation of a patient with genetic diagnosis of Sturge-Weber Syndrome. Evaluation of the drive and orofacial functions, semantic and pragmatic skills of oral language, perceptual visual and auditory processes, cognitive functions and test development of Denver II. RESULTS: in the assessment of orofacial drive the patient had abnormalities concerning bone structures of the face, inadequate as for the morphology, mobility and tone of all speech organs, presence of reflections of demand and sucking primitive. In the assessment of skills and Semantic Pragmatic of oral language and Speech, perceptual processes visual and auditory, cognitive functions the patient had sensoriomotor exploitation, with little interaction and shared attention of the patient and difficulty of eye contact; predominantly gestural communication, with no records of verbal communicative acts. The communicative functions of a request for action, exclamatory, exploratory and protest, and great use of non-focused light. Listening proved to be altered, representative gestures were sporadic, processes and perceptual functional laterality undefined. In the test development of Denver II, the patient failed in the areas: personal, social, language, motor fine and coarse. CONCLUSION: the patient showed speech diagnosis of phonoaudiological language and speech disturbance and moderate Oropharyngeal Neurogenic Dysphagia, being required to maximize communication, and adapt the structures and orofacial motor functions.
Sturge-Weber Syndrome; Hemangioma; Angiomatosis
