ABSTRACT
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.
Subject(s)
Acanthocytes/ultrastructure , Neuroacanthocytosis/blood , Adult , Creatine Kinase/blood , Deglutition Disorders/blood , Deglutition Disorders/complications , Dysarthria/blood , Dysarthria/complications , Humans , Lipoproteins/blood , Male , Movement Disorders/blood , Movement Disorders/complications , ThailandABSTRACT
Opsoclonus-myoclonus-ataxia (OMA) syndrome is a rare neurological disorder, characterized by a rapid onset of generalized myoclonus in association with chaotic multi-directional eye movements and, less frequently, cerebellar ataxia. OMA is commonly related to a paraneoplastic process, specifically neuroblastoma in children and lung or breast cancer in adults. Nevertheless, OMA may occur in association with various infectious agents, such as Coxsackie virus B3, Epstein-Barr virus, mumps, enterovirus, and streptococcus. We recently encountered two cases of HIV-related OMA syndrome. The first patient developed a sudden onset of OMA at the time of HIV seroconversion. The second patient experienced severe ataxia with a mild degree of myoclonus and opsoclonus, associated with an elevated CD4 count following the initiation of highly active antiretroviral therapy (HAART). We suggest that OMA syndrome may be another rare manifestation of HIV infection at the time of seroconversion or during an immune restoration period.
