[Clinical features of a senior patient with Williams syndrome].
We experienced a case of 62-year-old woman who was admitted for the evaluation of her trembling hands. She was diagnosed as Williams syndrome (WS) by fluorescent in situ hybridization (FISH) analysis. She was short in stature, had a characteristic face and moderate mental retardation, whereas she was talkative and gregarious. She also presented impaired visuospatial cognition, cerebellar ataxia and tremor like involuntary movement of the hands. No remarkable abnormality is noted in MRI of the brain. MRA study of the brain revealed the arteriosclerotic vascular change, such as elongation of basilar artery and dilatation of bilateral carotid arteries. Heterozygous microdeletion of chromosome 7q11.23 of this patient is typical for WS, the delction including elastin (ELN) and LIMK 1 gene. Although she was complicated by diabetes mellitus and hyperlipidemia, she had no cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), and survived to her age in good condition. The tremor-like involuntary movement disappeared after her discharge and its mechanism remains to be elucidated.
Nakaji
A
A
Department of Internal Medicine, Shinshu University School of Medicine.
Kawame
Y
Y
Nagai
C
C
Iwata
M
M
D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000150:complications; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics / Q000523:psychology