Rett syndrome ‐ natural history in 70 cases
作者:
Sakkubai Naidu,
Mary Murphy,
Hugo W. Moser,
Andreas Rett,
John M. Opitz,
James F. Reynolds,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1986)
卷期:
Volume 25,
issue S1
页码: 61-72
ISSN:0148-7299
年代: 1986
DOI:10.1002/ajmg.1320250507
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: Rett's syndrome;subacute encephalopathy;Kluver Bucy syndrome
数据来源: WILEY
摘要:
AbstractWe evaluated, at our institute, 70 females with Rett syndrome between 2 ½ to 34 ½ years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of 1ife, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been establishe
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