Keogh M J, Khan A, Gorman G, McNeill A, Horvath R, Burn J, Chinnery P F
Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK.
Pract Neurol. 2011 Apr;11(2):81-4. doi: 10.1136/jnnp.2011.242230.
A 39-year-old woman presented to the neurology clinic with an abnormal gait. Subsequent investigations confirmed a rare neurodegenerative disease. This case highlights the key clinical features and diagnostic approach to neuroferritinopathy, and describes the discovery of the disease in a family from Cumbria in the north west of England.
一名39岁女性因步态异常前往神经科门诊就诊。后续检查确诊为一种罕见的神经退行性疾病。该病例突出了神经铁蛋白病的关键临床特征和诊断方法,并描述了在英格兰西北部坎布里亚郡一个家族中发现该疾病的情况。