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.


OBJECTIVE
To describe the first known case of ChAc in Thailand.


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.


CONCLUSIONS
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.
Kanjanasut
Natlada
N
Chulalongkorn Comprehensive Movement Disorders Center, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok 10330, Thailand.
Jagota
Priya
P
Bhidayasiri
Roongroj
R
D000050:Acanthocytes / Q000648:ultrastructure*; D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D003680:Deglutition Disorders / Q000097:blood / Q000150:complications; D004401:Dysarthria / Q000097:blood / Q000150:complications; D006801:Humans; D008074:Lipoproteins / Q000097:blood; D008297:Male; D009069:Movement Disorders / Q000097:blood / Q000150:complications; D054546:Neuroacanthocytosis / Q000097:blood*; D013785:Thailand
D008074:Lipoproteins; D003402:Creatine Kinase