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


OBJECTIVE
To report clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients referred as WS.


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.


RESULTS
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.
Aravena
Teresa
T
Sección de Genética, Hospital Clínico de la Universidad de Chile, Santos Dumont 999, 5o piso sector B. Independencia, Santiago, Chile. taravena@ns.hospital.uchile.cl
Castillo
Silvia
S
Carrasco
Ximena
X
Mena
Ismael
I
López
Javier
J
Rojas
Juan P
JP
Rosemberg
Carol
C
Schröter
Carolina
C
Aboitiz
Francisco
F
D000293:Adolescent; D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D003071:Cognition; D020732:Cytogenetic Analysis / Q000379:methods; D005071:Evoked Potentials; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015899:Tomography, Emission-Computed, Single-Photon; D018980:Williams Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology