Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico / Williams syndrome: clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients
Rev. méd. Chile
;
130(6): 631-637, jun. 2002. ilus, tab
Artigo
em Espanhol
| LILACS
| ID: lil-317494
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 andmethods:
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
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Hibridização in Situ Fluorescente
/
Síndrome de Williams
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adolescente
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2002
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Chile
Instituição/País de afiliação:
Clínica Las Condes/CL
/
Universidad de Chile/CL
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