RESUMO
La enfermedad de Hallervorden-Spatz es un raro síndrome neurológico caracterizado por signos piramidales y extrapiramidales, disartria y demencia. El inicio suele ser en la infancia y la mayoría tienen un curso fatal en pocos años. Una gran proporción de casos es familiar con un patrón de herencia autonómico recesivo. En la mayoría se ha encontrado una mutación del gen que codifica la pantotenatokinasa (PANK2) situado en el cromosoma 20p13-p12.3 que conlleva a un acumulo de hierro en los ganglios basales cerebrales. El diagnóstico además de la clínica se realiza por imágenes típicas en RMN. La afectación psiquiátrica suele ser un deterioro cognitivo, así como síntomas depresivos. Hay pocos casos documentados de trastornos psicóticos. Presentamos un paciente con la enfermedad de Hallervorden-Spatz de comienzo tardío con episodios psicóticos que precedieron al desarrollo de la sintomatología neurológica. Se presentan y se discuten la fisiopatología y el tratamiento de las manifestaciones psicóticas (AU)
Hallervorden-Spatz disease is a rare neurological disorder characterized by pyramidal and extrapyramidal manifestations, dysarthria and dementia. The onset is usually in childhood and most patients have a fatal outcome in few years. A high percentage of cases are hereditary with a recessive autosomic pattern. In the majority of the patients reported, a mutation of the gene that encodes the pantothenate kinase (PANK2) located in the 20p13-p12.3 chromosome which causes iron storage in basal ganglia of the brain has been found. The diagnosis is based in clinical symptoms and specific RMN imaging findings. The most common psychiatric features are cognitive impairment as well as depressive symptoms, there are few cases with psychotic disorders. We studied a patient with late onset Hallervorden-Spatz disease and psychotic symptoms that preceded the development of neurologycal manifestations. The physiopathology and the treatment of psychotic symptomatology are presented and discussed (AU)
Assuntos
Humanos , Masculino , Adulto , Disartria/complicações , Demência/complicações , Transtornos Psicóticos/complicações , Tratos Piramidais/fisiopatologia , Doenças dos Gânglios da Base/complicaçõesRESUMO
Hallervorden-Spatz disease is a rare neurological disorder characterized by pyramidal and extrapyramidal manifestations, dysarthria and dementia. Its onset is usually in childhood and most patients have a fatal outcome in few years. A high percentage of cases are hereditary with a recessive autosomal pattern. In the majority of the patients reported, a mutation of the gene that encodes the pantothenate kinase (PANK2) located in the 20p13-p12.3 chromosome that causes iron storage in the basal ganglia of the brain has been found. Its diagnosis is based on clinical symptoms as well as specific MRI imaging findings. The most common psychiatric features are cognitive impairment as well as depressive symptoms. There are few documented cases with psychotic disorders. We present the case of a patient with late onset Hallervorden-Spatz disease and psychotic symptoms that preceded the development of neurological manifestations. The pathophysiology and the treatment of psychotic symptomatology are presented and discussed. Key words: Psicosis, Hallervorden-Spatz, late onset, Basal ganglia.
