ABSTRACT
Over the last years several families affected of a clinical syndrome characterized by sudden ataxia, related to physical or mental stress, and lasting a few days have been described. Intercritical exploration is otherwise normal. We describe a new case which presents the clinical, laboratory and neuroradiological data characteristic of periodic familial ataxia. The patient is a 34 year old male who from his 23 has suffered three crisis of gait inestability, ataxia of trunk and limbs and spontaneous nystagmus in every direction, which increased in association with head movement. These episodes were always in relation with fatigue and stress and have decreased in severity. Mean duration of crisis has been 4 to 6 days. After starting treatment with acetazolamide there have no new crisis. In this case we have found no family history of the disease as it was the rule in previous description.
Subject(s)
Ataxia/etiology , Acetazolamide/administration & dosage , Acetazolamide/therapeutic use , Adult , Ataxia/drug therapy , Ataxia/physiopathology , Atrophy/diagnosis , Atrophy/physiopathology , Brain/physiopathology , Carbonic Anhydrase Inhibitors/administration & dosage , Carbonic Anhydrase Inhibitors/therapeutic use , Female , Humans , Magnetic Resonance Imaging , Male , Nystagmus, Physiologic , Periodicity , Stress, Psychological/psychologyABSTRACT
We carried out a longitudinal prospective study of 5179 appointments with 1782 patients, which generated 4483 scheduled consultation in a 10-month period, so as to evaluate changes in compliance, duration of visit and month of appointment, depending on the age and sex of the patient and the cause for consultation. There were no sex or age group differences in compliance, but there were differences depending on the cause for consultation (p less than 0.0001). Obesity, dyslipemia and family planning were the groups with the lowest compliance. A time longer than 15 minutes for each visit was spent in a greater number of women than of men (p less than 0.0001). The age group with the longest time interval per visit was the 25-34 years group. There was also a difference depending on the cause for consultation, which was also not randomly distributed throughout the surveyed months (p less than 0.05). It was concluded that the compliance with appointments was directly related with the perceived morbidity, that subprograms of attention to women take a longer time per visit, and that the month of appointment determines the distribution of the causes for consultation.
