Since approximately one and half year age, domitila has
show signs of her illnes as well as changes of behavior, being unable
to follow the normal course of development, losing firstly the capacity
of speaking, followed by atypical movements, a stereotype of rubbing her
hands, taking them to her mouth, being unable to control salivation. Her
perents noticed indiference toward the enviroment and the also to affective
stimuli.
She has been to several experts such as: na otorhinolaringologist for
hearing test, preseting normal results; a psycologist for evaluating behavior
and, finaly, a presenting because she started having convulsive crises
with epileptic fits.
After several investingations with computerized tomography
and magnetic resonnance of the brain and reseaches for innate errors of
metabolism, we came to the conclusion from her clinical state and exams,
including na electroencephalogram, that hers is an illness called Rett`s
syndrome.
It`s a degenerative neurological illness, typical of the female
sex; the child is born normally and after its six month of age, it beings
to present a deacceleration of the skull growth and severe loss of speaking
developing na autistic behavior, hiperventillation crises with periods
of apnea, epilepsy of difficult control, hypotony, loss of welght - althouch
eating well - ataxia, with some difficulty, at the beginning, until the
total loss of walking, finally staying in bed, with orthopedical problems,
compromissing her quality of life.
The treatment of Rett`s syndrome is symtomatic, being essentical motor
and breating physioterapies in order to combat the dystrophic process
and vicious portures.
Affective stimuli shoul not be neglected to avoid loss of contact with
the family enviroment. In Domitila`s specific case, there is the need
for special nursing care, use of a wheelchair and hospital bed (Fowler
type).