Neuroacanthocytosis with unusual clinical features: A case report.
Medicine (Baltimore)
; 98(2): e14050, 2019 Jan.
Article
en En
| MEDLINE
| ID: mdl-30633203
RATIONALE: Neuroacanthocytosis (NA) is a heterogeneous group of inherited neurodegenerative disorders characterized by misshapen spiculated erythorcytes and symptoms that resemble Huntington's disease. PATIENT CONCERNS: A 59-year-old female who developed hyperkinetic involuntary movements that became progressively more obvious during the course of a year. DIAGNOSES: Acanthocytes were observed in a peripheral blood smear. The patient had elevated levels of serum creatine kinase (CK). Gene sequencing did not reveal a genetic mutation. INTERVENTIONS: The patient was administered oral tiapride, alprazolam, B1 and B12 Vitamins. OUTCOMES: After 2 months of treatment the patient's symptoms were obviously alleviated. At the 6 month follow-up, the patient could feed herself and walk without assistance. LESSONS: The NA syndrome is extremely rare. It may be identified in the clinic based on abnormal orofacial movement, chorea, cognitive decline, elevated CK levels, and acanthocytosis. If available, protein- or genetic-based testing may provide a confirmatory diagnosis.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neuroacantocitosis
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Medicine (Baltimore)
Año:
2019
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Estados Unidos