What a Blood Smear Added to a Case of Progressive Involuntary Movements
A clinical record may contain a suspected syndrome, a finding that supports it, and a genetic test that leaves the precise cause unresolved. A case report of progressive involuntary movements illustrates how those pieces fit together.
What the tests added
The authors reported unusually shaped red blood cells called acanthocytes on a peripheral smear and elevated creatine kinase. The findings supported their consideration of a neuroacanthocytosis syndrome. The reported genetic testing did not identify a mutation in the genes examined.
How to summarize an unresolved cause
Identify which findings were observed and what the genetic test covered. The report also describes improvement during treatment that included tiapride, alprazolam and vitamins. Improvement while several treatments were used does not establish which one produced it, and it does not supply genetic confirmation.
Source
Zhu and colleagues, Medicine (2019). Journal article · Full text.
