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Rev Med Chil. 2002 Jun;130(6):631-7.

[Williams syndrome: clinical, cytogenetical, neurophysiological and neuroanatomic study].

[Article in Spanish]

Author information

  • 1Sección de Genética, Hospital Clínico de la Universidad de Chile, Santos Dumont 999, 5o piso sector B. Independencia, Santiago, Chile. taravena@ns.hospital.uchile.cl

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.

PMID:
12194685
[PubMed - indexed for MEDLINE]
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