A young female with progressive neuropsychiatric manifestations and late onset chorea, had a diagnostic delay with repeatedly normal blood pictures!
Neuroacanthocytosis is a very rare neurodegenerative disorder, with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants. The determination of acanthocytosis in peripheral blood smears may be negative in a standard setting and a negative screen does not exclude the syndrome. A more sensitive and specific
method for the detection of acanthocytes uses a 1:1 dilution with physiological saline and phase contrast microscopy. Also, an important pitfall is to assume acanthocites will always be present in these syndromes. Not only it can present late in the disease but the labatoratory are unreliable in standard laboratory procedures.
Article Neuroacanthocytosis Syndromes
I think it is worth a case report, indeed. Depending on how well documented it is. Perhaps if a picture of the acanthocytes in the blood smear, if present, would also add to the report. A video of her movement disorder would be very interesting.
Were you able to diagnose chorea-achantocytosis by means of a Western blot?
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