The Rett condition--broad clinical variability--a case report over three decades.
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.
Hagberg
B
B
Department of Pediatrics, University of Göteborg, Sweden.
D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007845:Laughter; D001523:Mental Disorders / Q000150:complications; D010146:Pain; D015518:Rett Syndrome / Q000150:complications / Q000175:diagnosis*; D013064:Speech Disorders / Q000150:complications; D013239:Stereotyped Behavior