An exceptional case of MSA-P

Abstract

Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by progressive parkinsonism with poor response to levodopa or a cerebellar syndrome associated with early autonomic failure [1–3]. Onset usually occurs within the sixth decade. Mean survival time after diagnosis is 7–9 years [4–6]. We highlight an unusually young patient diagnosed with MSA. At the age of 34 years, this female of Turkish descent started to experience recurrent syncopes. Retrospectively, orthostatic hypotension (OH) probably started at age 31, manifesting as ‘‘coat hanger pain’’. The remaining medical history was unremarkable. Family history was negative for neurological disorders, the parents were not consanguineous. Following recurrent lower urinary tract infections due to urinary retention, the patient started self-catheterism 9 months after onset. During that period, the patient made an odyssey through several hospitals in Vienna. Her medical condition was classified as psychogenic, she was diagnosed with depression and psychosomatic disorder. On first presentation to the authors 16 months after onset, she appeared anxious but cognitively intact. Clinical examination showed hypomimia, left-sided hemi-parkinsonism and mild muscle weakness without a clear cerebellar deficit. Mainly due to OH, the patient could only walk several steps without support. A standing test [7] revealed severe OH (systolic blood pressure dropping by 50 mmHg). Anti-orthostatic therapy led to a mild improvement of walking tolerance. A suprapubic catheter was required for treatment of urinary retention. Magnetic resonance imaging (MRI) of the whole central nervous system showed mild pontocerebellar atrophy. Dopamine transporter single photon emission computerized tomography (SPECT) using I-FP-CIT-SPECT revealed asymmetric reduction of striatal tracer uptake, most pronounced in the right putamen. I-IBZM SPECT showed reduced striatal D2-receptor binding, suggestive of MSA [8]. Serologic screening for vasculitis was negative. Routine blood tests including thyroid function, copper, ceruloplasmin and cerebrospinal fluid markers were unremarkable. No evidence of an occult neoplasm was found. Anti-gliadin antibodies were negative. Spinocerebellar ataxias type 1–3, 6, 8, 10, 12 and 17, Niemann-Pick’s disease, iron storage disorders and neuroacanthocytosis were ruled out. MSA of the Parkinsonian type (MSA-P) [9] was diagnosed based on levodopa-resistant parkinsonism, OH with recurrent syncopes and severe bladder dysfunction. There were no signs of oromandibular dystonia. The following year, the patient became wheel-chair bound and developed significant slurred and hypophonic dysarthria and pseudobulbar affect. Dexterity of the left hand became severely impaired. An antecollis/laterocollis to the right, a jerky, myoclonic rest tremor of the right arm, T. Foki (&) W. Pirker Department of Neurology, Medical University of Vienna, Wahringer Gurtel 18-20, 1090 Vienna, Austria e-mail: thomas.foki@meduniwien.ac.at