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  • Title: [Williams syndrome: clinical, cytogenetical, neurophysiological and neuroanatomic study].
    Author: Aravena T, Castillo S, Carrasco X, Mena I, López J, Rojas JP, Rosemberg C, Schröter C, Aboitiz F.
    Journal: Rev Med Chil; 2002 Jun; 130(6):631-7. PubMed ID: 12194685.
    Abstract:
    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.
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