Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
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 (Rev Méd Chile 2002; 130: 631-37)
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Sociedad Médica de Santiago
2002
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oai:scielo:S0034-988720020006000052014-08-20Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómicoAravena C,TeresaCastillo T,SilviaCarrasco C,XimenaMena G,IsmaelLópez C,JavierRojas O,Juan PRosemberg P,CarolSchröter G,CarolinaAboitiz D,Francisco Cognition disorders In situ hybridization fluorescence Tomography emission-computed single-photon Williams syndrome 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 (Rev Méd Chile 2002; 130: 631-37)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.130 n.6 20022002-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000600005es10.4067/S0034-98872002000600005 |
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Aravena C,Teresa Castillo T,Silvia Carrasco C,Ximena Mena G,Ismael López C,Javier Rojas O,Juan P Rosemberg P,Carol Schröter G,Carolina Aboitiz D,Francisco |
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Aravena C,Teresa Castillo T,Silvia Carrasco C,Ximena Mena G,Ismael López C,Javier Rojas O,Juan P Rosemberg P,Carol Schröter G,Carolina Aboitiz D,Francisco Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico |
author_facet |
Aravena C,Teresa Castillo T,Silvia Carrasco C,Ximena Mena G,Ismael López C,Javier Rojas O,Juan P Rosemberg P,Carol Schröter G,Carolina Aboitiz D,Francisco |
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Aravena C,Teresa |
title |
Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico |
title_short |
Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico |
title_full |
Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico |
title_fullStr |
Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico |
title_full_unstemmed |
Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico |
title_sort |
síndrome de williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico |
description |
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 (Rev Méd Chile 2002; 130: 631-37) |
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Sociedad Médica de Santiago |
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2002 |
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http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000600005 |
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