Multiple system atrophy-cerebellar type: Diagnostic challenge in resource-limited settings case report

Clin Case Rep. 2024 Jul 3;12(7):e9142. doi: 10.1002/ccr3.9142. eCollection 2024 Jul.

Abstract

Key clinical message: This case report highlights the challenges of diagnosing MSA-C in resource-limited settings. MRI findings like the "hot cross bun" sign can be supportive, but the unavailability of advanced tools like seed amplification assay may delay diagnosis. Early diagnosis is crucial for proper symptom management.

Abstract: Multiple system atrophy is a rare neurodegenerative disorder affecting the pyramidal, autonomic, nigrostriatal, and cerebellar tracts. Multisystem atrophy should be considered in adults with progressive motor or autonomic dysfunctions. Clinical manifestations vary depending on the system, including bradykinesia, tremor, rigidity, cerebellar ataxia, and autonomic failure. Depending on the initial predominant manifestation, multisystem atrophy is classified as Parkinsonian (MSA-P) and cerebellar (MSA-C). Our patient presented with progressive loss of balance, rigidity, slurred speech, choking episodes, and loss of morning tumescence for 4 years, suggesting autonomic and cerebellar involvement. He was diagnosed with MSA after 4 years of initial presentation with combinations of magnetic resonant imaging findings and clinical manifestations. Diagnosing multiple system atrophy in such resource-limited areas is challenging. The unavailability of seed application tests and biomarkers significantly affected the delayed diagnosis.

Keywords: multiple system atrophy; neurodegenerative disorder; synucleinopathies; tremor.

Publication types

  • Case Reports