The neurologist · 2020
Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): A Case With Long-term Follow-up.
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.
Yazici Gencdal Isil, Dincer Alp, Obuz Oguzhan, Yapici Zuhal
Аннотация
INTRODUCTION: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is caused by a recessive mutation in the DARS2 gene and can be recognized by specific magnetic resonance imaging patterns.
CASE REPORT: A girl who developed leg tremors at age 4 years was diagnosed at age 17 years with LBSL -after evolution of ataxia and sensory loss. Examination at age 29 revealed mild spastic gait, ataxia, and sensory loss, and she did not require assistance to walk.
CONCLUSION: This report illustrates the clinical and magnetic resonance imaging characteristics of a slowly progressive long-term course of childhood-onset LBSL.
CASE REPORT: A girl who developed leg tremors at age 4 years was diagnosed at age 17 years with LBSL -after evolution of ataxia and sensory loss. Examination at age 29 revealed mild spastic gait, ataxia, and sensory loss, and she did not require assistance to walk.
CONCLUSION: This report illustrates the clinical and magnetic resonance imaging characteristics of a slowly progressive long-term course of childhood-onset LBSL.