Medicine · 2019
Neuroacanthocytosis with unusual clinical features: A case report.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Zhu Hui, Feng Xue-Min, Zhao Teng, Liu Jing-Yao
Аннотация
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.
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.