Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico / Williams syndrome: clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients

RESUMO

Background: Williams syndrome (WS) is a genetically based disorder caused by deletion of elastin and contiguous genes on chromosome 7q11.23. This syndrome is characterized by multiorganic involvement with dysmorphic facial features and a distinctive cognitive profile. It is an interesting model for elucidation of relationships between brain, cognition and genes. Patients have a visual-spatial cognition impaired with relative strengths in social and language abilities. Aim: To report clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients referred as WS. Patients and methods: Forty four patients, aged 2 to 17 years, with the clinical diagnosis of Williams syndrome were studied with fluorescence in situ hybridization (FISH). In three cases, electrophysiological and neuroimaging studies were performed. Result: The deletion was confirmed in 23 patients. In three patients with neurophysiological studies, event related potentials suggested a cognitive difficulty in detecting and processing visual stimuli. Magnetic resonance imaging showed normal brain morphology. SPECT showed hypoperfusion of the right frontal lobe and bilateral anterior cingulum hyperperfusion. Conclusions: There are functional alterations in the brains of patients with Williams, which may be related to the cognitive deficits