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Título

Clinical reasoning in the diagnosis of Multiple System Atrophy: a case report

RESUMO

CASE PRESENTATION: A 53-year-old female complained of sudden and temporary loss of consciousness episodes after assuming the orthostasis position at the first admission. 2 years later, she had worsening symptoms, associated with dysarthria and insidious paresis of the right side. Currently, she had a clinical deterioration, with multiple fainting spells; severe dysarthria; insomnia and urinary incontinence. Upon examination, she was alert and oriented; had dysmetria, movement decomposition, hypermetric saccade and nystagmus; right-sided hemiparesis; plastic hypertonia; bradykinesia 3+/4+. Tilt test with positive result of type 3 confirmed postural hypotension and brain MRI showed tenuous T2/Flair hyperintensity in the topography of the median raphe of the pons. Follow-up neuroimaging showed a “Hot cross burn” signal, cerebellar volumetric reduction and bilateral putaminal atrophy. In the clinical course, Levodopa was used, with an unsatisfactory response and a possible extrapyramidal reaction, reinforcing the probable diagnosis of Multiple System Atrophy (MSA). In addition, she used fludrocortisone and had no clinical response to baclofen.

DISCUSSION: MSA is a neurodegenerative disorder that affects approximately 2 to 5 people per 100,000 population and has an adult-onset with a mean age of 55-60 years old. Although the cause of MSA is unknown, the described mechanism accounts for the abnormal accumulation of α-synuclein mostly in oligodendroglial cells. The clinical features include autonomic failure, parkinsonism and ataxia. MSA has two motor phenotypes: parkinsonian and cerebellar (MSA-C). This patient has an MSA-C phenotype, presenting as gait ataxia, limb ataxia, ataxic dysarthria and cerebellar disturbances of eye movements. A poor response to levodopa is highlighted as a characteristic that differentiates Parkinson's disease from MSA, as well as cerebellar and autonomic signs. MRI may reveal putamen, pons and middle cerebellar penducles atrophy, as was described in the case here. The “Hot Cross Burn”, a transverse and anteroposterior T2 hyperintensity in the pons region, is a characteristic sign result of the pontocerebellar fibers degeneration.

FINAL CONSIDERATIONS: MSA is a rare and severe disease, critical clinical reasoning associated with neuroimaging is extremely important for early diagnosis, since there is a symptomatological correlation mainly with idiopathic Parkinson disease and other atypical parkinsonian syndromes.

Palavras Chave

Multiple System Atrophy; MSA; MSA-C; Diagnosis, Differential