Case 421 Enunciado Male patient, 27 years old, healthy until about 4 years ago, when started some involuntary movements in the upper limbs, progressing to the lower limbs. His family observed obsessive behavior towards virtual pornography, in addition to frequent falls and imbalance. He presented progressive motor difficulty, inappetence and weight loss. On physical examination, there was motor impersistence of the tongue, dysarthria, bizarre gait, gestural apraxia, vocal tics and chorea. Image 1: Computed tomography of the skull in axial section without contrast, ate the level of the basal ganglia. Image 2: Computed tomography of the skull in axial section, without contrast, ate the level of the lateral ventricles.Image 3: Genogram with four generations of the family. Patient indicated by the red arrow.Question:Based on the clinical history and the images presented, what is the probable diagnosis of the patient? Sydenham’s chorea Acanthocytosis chorea Huntington’s disease Spinocerebellar ataxia Questão de Prova (Prerequisite in Neurology, FGO – 2018) Huntington's disease is a progressive disease comprising abnormal movements, dementia and psychiatric manifestations. From the point of view of genetic, pathophysiological and molecular aspects, it is characterized by being: Autosomal dominant disease, with neuronal degeneration in the striatum and in the deep layers of the cortex, as a consequence of alterations in the number of CAG repeats in the Huntingtin protein. Autosomal recessive disease, with neuronal degeneration in the pallidum and in the superficial layers of the cortex, as a consequence of changes in the number of MAT repeats in the Huntingtin protein. X-linked disease, with neuronal degeneration in the putamen and deep layers of the cortex, as a consequence of changes in the number of GAC repeats in the Huntingtin protein. Autosomal recessive disease, with neuronal degeneration in the subthalamic nucleus and in the superficial layers of the cortex, as a consequence of changes in the number of TAM repeats in the Huntingtin protein. Time is Up! Time's up
