RESUMO
UNLABELLED: Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of neuroacanthocytosis syndromes, a group of genetically defined diseases associated with progressive degeneration of the basal ganglia and peripheral red blood cell acanthocytes. The onset of the disease is variable in its manifestations and psychiatric symptoms may dominate the clinical picture. CASE REPORT: A 48-year-old woman with a history of seizures since age 35 developed behavioral and affective changes that led to her referral to our mental health unit. She had an unsteady gait, motor clumsiness, emotional instability and impulsivity. Personality changes related with medical illness were diagnosed despite a normal neurological survey. Subsequent development of choreic involuntary movements, evidence of striatal atrophy on MRI and detection of acanthocytes in a peripheral blood smear allowed diagnosis. The role of the basal ganglia in psychiatric manifestations and the pathophysiology of chorea-acanthocytosis are discussed.
Assuntos
Transtornos Mentais/etiologia , Neuroacantocitose/complicações , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
El estudio analiza el desarrollo a través de la edad de dimensiones clínicas, cognitivas, académicas y relacionales en casos clínicos de Trastorno por Déficit de Atención con Hiperactividad (TDAH). Metodología de investigación: Se analiza una muestra de 90 casos con TDAH (6-16 años), con un diseño seccional, comparaciones transversales y criterios de investigación diferencial en función de la edad. El caso de TDAH se valoró según criterios DSM-IV y se consideraron las variables perfil intelectual, resultados académicos, dimensión relacional y comorbilidad. Se utilizaron estadísticos descriptivos y exploratorios, implementando un procedimiento de regresión lineal. Resultados: Los casos de TDAH analizados presentan importante alteración en dimensiones clínicas, académicas y relacionales. Solo los resultados académicos se deterioran progresivamente con la edad (p<0.05) (AU)
The study analyses the development through the age of clinical, cognitive, academic and social dimensions, in clinical cases of attention deficit hyperactivity disorder (ADHD). Investigation methodology: A sample of 90 cases of ADHD is analysed (6-16 years). The design is sectional, transverse comparisons and with criterion of differential investigation in function of the age. The case of ADHD was valued according to DSM-IV criterion. There was considered the following variables: intellectual profile, academic results, relational factor and comorbidity. Descriptive and exploratory statistic was used and a procedure of lineal regression was implemented. Results: The cases of ADHD present important alteration in clinical, academic and social dimensions. Only the academic results deteriorate progressively with the age (p <0.05) (AU)
