The patient is a 12-year-old male resulting from a term delivery using forceps for stationary dilatation.
Apgar and other examinations postpartum were normal.
Rest was indicated during the last trimester of pregnancy due to threatened delivery.
During the postnatal period she presented delayed psychomotor development.
At 3 years she presented absence seizures without subsequent epileptic seizures or need for treatment.
Presently, she presents moderate mental retardation, learning difficulties, severe behavioral alterations in the autism spectrum, sphincter control deficit and attention deficit hyperactivity disorder, treated first with antioxidant methylphenidate and later on with attention deficit hyperactivity disorder.
It also presents social anxiety and phobias to noise and animals, hypersensitivity to sounds, textures and certain foods, as well as difficulties in chewing and secondary generalised hypotonia valgus feet treated with extreme melatonin, and vomiting treated.
There are no cardiac or dysautonomic alterations or characteristic facial features.
The patient has a healthy older brother, but has a second episode due to the maternal branch of 33 years diagnosed at 13 years of age with FXS after genetic testing.
At that time, the entire maternal family branch was genetically studied and oral meetings were held, with no written report, that both the mother of the case patient and her sisters were healthy carriers.
This condition was not sufficiently valued by the family in successive healthy children of the sisters and the healthy brother of the case patient.
The mother of the case patient did not receive genetic counseling or prenatal diagnosis indications in any of her two pregnancies.
Genetic analysis was performed only in the postnatal period in both cases upon request.
