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Título

MACHADO-JOSEPH DISEASE AGGRAVATED BY HIV THERAPY ABANDONED AND COVID-19 INFECTION: CASE REPORT

RESUMO

CASE: 45 years-old female, presented with incoordination and drunken gait for 15 years, with progressive worsen along the years. She has positive familiar history of spinocerebellar atrophy type 3 (SCA-3) with positive genetic test in father and sister. Her genetic test for SCA-3 was also positive. After multiple pharmacological attempts, reached the symptomatic control with risperidone, baclofen, buspiron and clonazepam, restoring her functionality for daily basic activities. On September 2021, she has evolved with worsen of the ataxic condition and weight loss, even with regular medication use, becoming bedridden. Thus, she was admitted for investigation and clinical compensation. On neurological exam: alert, communicative, thin, horizontal gaze decomposition, severe dysphagia, severe hight amplitude tremor in limbs and head, movement decomposition, dysmetria, dysdiadochokinesis, scant speech and positive Babinski torso-thigh test. She had symptoms of a respiratory infection, with laboratory positive for COVID-19 e HIV infections. She claimed to know of HIV infection since 2011 and abandoned the treatment nearly 12 months before the ataxic decompensation. Brain RMI ruled out opportunistic infeccion in CNS and showed moderate atrophy of pons, cerebellum and middle cerebelar peduncles, with T2/FLAIR hypersignal in the same location. After an initial improvement of the respiratory infection, she evolved with cardiorespiratory arrest in pulseless VT for 26 minutes, returned in coma vigil and died after a few weeks in the ICU. DISCUSSION: The SCA 3 is the prototype of autossomic dominant spinocerebellar atrophies. It stems from the CAG expansion in the ATXN3 gene in chromosome 14. There is no specific treatment, and symptomatic management being performed. The decompensation is common in systemic abnormalities, such infection. FINAL COMMENTS: We emphasize that
atypical exacerbation of spinocerebellar atrophy disorder is linked principally to infections, and their control is essential in the prognosis and survival of patients with neurodegenerative diseases.

Palavras Chave

Machado-Joseph Disease; COVID-19; HIV; Neurology