Objective: To describe the case of a young man with the diagnosis of probable Multiple System Atrophy.

Background: MSA is a complex neurodegenerative disorder. The diagnostic criteria of this synucleinopathy requires the association of a dysautonomic syndrome to a cerebellar or parkinsonian syndrome. The average age of onset is 57 and the prognosis is poor, with a fast progression to disability and reduced response to available therapeutic strategies. According to the last diagnosis consensus, the diagnosis is limited to patients with an age of onset above 30 years old. There are very few cases reported before 40 years-old.

Methods: Case Report.

Results: A 36 year-old man with a progressive slowness of the right hemibody for 8 months, beginning in the post-op of a ureteral stenosis dilatation. He also refers an occasional left limb resting tremor, and hypophonia without dysphagia. The urinary urgency and incomplete bladder emptying leaded to the urodynamic study, which revealed bladder hyperactivity with ureteral stenosis. He also displayed about fatigue, sleep pattern dysfunction, erectile dysfunction, orthostatic hypotension and subjective memory complaints. On neurological examination we observed an akinetic-rigid syndrome with a right hemibody predominance (MDS-UPDRS-III-29), generalized hyperreflexia without any other pyramidal or cerebellar signs. The ocular fixation was unstable, with slight hypometric vertical saccades, but normal saccadic velocities. Secondary causes of parkinsonism where excluded. Brain MRI revealed a linear hyperintense signal laterally to the lenticular nuclei and in the transverse pontocerebellar fibers in T2, putaminal hypointense signal in SWI scan and diffuse cerebellar atrophy. DATSCAN showed a highly reduced dopamine pre-synaptic transporters mainly in right nuclei. Cardiac Scintigraphy with 123I-MIBG did not evidence cardiac sympathetic denervation. Response to Levodopa was poor, even with increasing dosage, without frank reduction in motor and non-motor symptoms.

Conclusions: This is a clinical documentation of a man with probable MSA-P, very particular because of its age of onset associated to a characteristic image and richness of non-motor symptoms, circumstances which prevented a diagnosis until the emergence of the parkinsonian syndrome.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-young-man-with-multiple-system-atrophy-a-case-report/