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The Rett condition--broad clinical variability--a case report over three decades.

作者信息

Hagberg B

机构信息

Department of Pediatrics, University of Göteborg, Sweden.

出版信息

Neuropediatrics. 1995 Apr;26(2):83-4. doi: 10.1055/s-2007-979730.

DOI:10.1055/s-2007-979730
PMID:7566460
Abstract

A forme fruste Rett variant female with partially preserved speech remnants is described. She was first seen by the author at an age of 4 years. She then presented with an unspecific syndrome of moderate mental retardation. At follow-up when aged 32 she had successively through the years developed a number of Rett characteristic abnormal behavioural patterns and neurologic deviations, together convincingly indicating a Rett syndrome. However, this has been discrete and atypical in original presentation and first apparent in the long term clinical profile. It is underlined that a whole battery of Rett peculiarities appearing with age should be present to allow diagnostic accuracy.

摘要

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