The first case report of neuroacanthocytosis in Thailand: utilization of a peripheral blood smear technique for detecting acanthocytes.

BACKGROUND: Neuroacanthocytosis (NA) is a heterogeneous group of hereditary syndromes characterized by the association of neurological abnormalities with acanthocytosis. Among those, chorea-acanthocytosis (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked dysarthria and dysphagia.

PURPOSE: To describe the first known case of ChAc in Thailand.

METHODS AND RESULTS: A 40-year-old man presented with "core features" of NA which led to a high level of suspicion of this syndrome. An initial dry blood smear did not reveal acanthocytes but by utilizing diluted blood combined with a wet blood smear, which is accepted as the clinical gold standard when combined with an examination, acanthocytes were detected.

CONCLUSION: Diagnosis of NA is possible without molecular diagnostics by relying on a high degree of clinical suspicion of characteristic clinical features and a standardized wet blood smear method of peripheral blood examination for acanthocytes.