Document Detail


The first case report of neuroacanthocytosis in Thailand: utilization of a peripheral blood smear technique for detecting acanthocytes.
MedLine Citation:
PMID:  20430518     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Natlada Kanjanasut; Priya Jagota; Roongroj Bhidayasiri
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-04-28
Journal Detail:
Title:  Clinical neurology and neurosurgery     Volume:  112     ISSN:  1872-6968     ISO Abbreviation:  Clin Neurol Neurosurg     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-07     Completed Date:  2010-09-08     Revised Date:  2011-05-26    
Medline Journal Info:
Nlm Unique ID:  7502039     Medline TA:  Clin Neurol Neurosurg     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  541-3     Citation Subset:  IM    
Copyright Information:
Copyright 2010 Elsevier B.V. All rights reserved.
Affiliation:
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.
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MeSH Terms
Descriptor/Qualifier:
Acanthocytes / ultrastructure*
Adult
Creatine Kinase / blood
Deglutition Disorders / blood,  complications
Dysarthria / blood,  complications
Humans
Lipoproteins / blood
Male
Movement Disorders / blood,  complications
Neuroacanthocytosis / blood*
Thailand
Chemical
Reg. No./Substance:
0/Lipoproteins; EC 2.7.3.2/Creatine Kinase
Comments/Corrections
Comment In:
Clin Neurol Neurosurg. 2011 May;113(4):343   [PMID:  21251752 ]

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