HUNTINGTON'S DISEASE: A CASE REPORT

Abstract

In view of the diagnostic importance of Huntington's disease (HD) and the difficulties faced by patients, this study aims to report the clinical and laboratory profile of a patient diagnosed late with HD. The case report approved by the UNIARP Ethics Committee describes the trajectory of a 40-year-old male patient, former polydrug user, hospitalized for five years in a psychiatric hospital. The patient has a confirmed diagnosis of HD, with a significant family history (mother and maternal grandmother died due to the disease). The first symptoms, including episodes of aggression and mild chorea, appeared 15 years ago, being aggravated by the use of psychoactive substances. The patient suffered amputation of phalanges during a psychotic episode. The diagnosis of HD was confirmed by genetic tests and imaging findings, which revealed diffuse cerebral atrophy and caudate nuclei, typical features of the disease. Currently, the patient is bedridden, emaciated, disoriented, with motor difficulties, incontinence and frequent muscle spasms. Drug treatment aims to alleviate neuropsychiatric symptoms, although the use of typical neuroleptics diverges from recommendations that suggest atypical neuroleptics for better tolerability. The report highlights the complexity of the management of HD, especially in cases of late diagnosis, and highlights the need for more effective therapies that go beyond symptomatic treatment, aiming to improve the quality of life and prognosis of patients.