Prashantha D K, Taly Arun B, Sinha Sanjib, Yasha T Chikkabasavaiah, Gayathri Narayanappa, Kovur J M E, Vijayan Joy
Departments of Neurology, Neuroimaging and Interventional Radiology, Bangalore, India.
Ann Indian Acad Neurol. 2010 Apr;13(2):142-4. doi: 10.4103/0972-2327.64642.
Familial amyloidotic polyneuropathy (FAN type 1) is a rare systemic disease that causes severe and disabling peripheral neuropathy. We describe the phenotypic, radiological, and pathological characteristics of a patient with familial amyloid polyneuropathy type 1 who had evidence of motor-sensory-autonomic neuropathy, ocular vitreous deposits, diffuse leptomeningeal involvement, and hypertrophic cardiomyopathy. Muscle involvement, an infrequently reported feature, was also observed. Early recognition of the disease has significant therapeutic implications.
家族性淀粉样多神经病（1型FAN）是一种罕见的全身性疾病，可导致严重且致残的周围神经病变。我们描述了一名1型家族性淀粉样多神经病患者的表型、放射学和病理学特征，该患者有运动-感觉-自主神经病变、眼玻璃体沉积物、软脑膜弥漫性受累及肥厚型心肌病的证据。还观察到了肌肉受累这一较少报道的特征。早期识别该疾病具有重要的治疗意义。
