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Gaceta Médica Espirituana

On-line version ISSN 1608-8921

Abstract

IGLESIA LOPEZ, Pedro; CUELLAR ALVAREZ, Jesús  and  RODRIGUEZ CALVO, María Dolores. Diagnosis of Rett. Presentation of a case. Gac Méd Espirit [online]. 2019, vol.21, n.1, pp.51-58.  Epub Apr 01, 2019. ISSN 1608-8921.

Background:

The syndrome of Rett is a neurological dysfunction that affects the girls and women whose incidence in the general population is of a case for each 10 000 women almost exclusively, its diagnosis it is based on the observation and clinical evaluation.

Objective:

To report the case due to its infrequency and to its clinical presentation.

Case of presentation:

Case of a 28 year-old patient, with diagnosis of syndrome of Rett, of the municipality Santa Clara, with antecedents of health until approximately the seven months of life in that their parents already began to notice a regression in their psychomotor development and loss of the abilities in the verbal and not verbal communication acquired until that moment, which until now has been possible thanks to medical care and neurological rehabilitation to prolong their general health status and evaluated it was evaluated in the Pediatric Hospital with an exams group, being arrived to the current diagnosis. From that moment she began the rehabilitation treatment, also is followed the maintenance of the diet and the prevention of the complications.

Conclusions:

The diagnosis of this illness is complex because its symptoms and signs are insidious and they are indispensable the clinical exams and of pictures to keep in minds the rehabilitation process in the patient.

Keywords : Rett syndrome; diagnosis.

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