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

Area of Science:

• Neuroscience
• Clinical Neurology

Background:

• Multiple system atrophy (MSA) is a rare neurodegenerative disease impacting multiple nervous system tracts.
• It presents with diverse symptoms including motor and autonomic dysfunction.
• MSA is classified as MSA-Parkinsonian (MSA-P) or MSA-Cerebellar (MSA-C) based on primary symptoms.

Observation:

• A patient presented with progressive balance loss, rigidity, speech issues, choking, and autonomic failure over four years.
• Clinical presentation suggested cerebellar and autonomic system involvement consistent with MSA-C.
• Diagnosis was delayed due to limited diagnostic tools in a resource-limited setting.

Findings:

• Magnetic Resonance Imaging (MRI) revealed supportive signs like the "hot cross bun" sign.
• The absence of advanced diagnostic tools, such as seed amplification assays, hindered timely diagnosis.
• A definitive diagnosis of MSA was established after a four-year symptomatic period.

Implications:

• This case underscores the diagnostic challenges of MSA-C in resource-limited environments.
• The lack of advanced biomarkers and testing capabilities significantly delays diagnosis.
• Prompt diagnosis is essential for effective symptom management and patient care.