The Rett Condition - Broad Clinical Variability - A Case Report Over Three Decades

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 year. 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 pecularities appearing with age should be present to allow diagnostic accuracy.

Key words

Rett syndrome - Behavioural deviation battery - Mental deficiency