Joseph病黄氏家系患者的周围神经及肌肉病变

THE PERI PHERAL NEUROPATHY AND MYOPATHY OF JOSEPH DI SEASE IN HUANG'S FAMILY

本文观察3例Joseph病黄氏家系患者的周围神经、肌肉及皮肤活检病理。根据临床症状,3例分别为Ⅰ型、Ⅱ型及Ⅲ型,所有病例均有共同的病理学改变,即周围神经的有髓纤维减少、轴索粗细不等;电镜证实轴索退变,所绕髓鞘或增厚,或分层,雪旺氏细胞有轻度增生;肌肉呈不同程度的神经性肌萎缩,Ⅲ型者萎缩尤著,肌组织大部分为脂肪结缔组织所取代,残留的萎缩肌纤维一部分有继发退变,电镜下可见肌原纤维排列紊乱,线柱体退变及肌纤维坏死;第Ⅰ、Ⅲ型取皮肤活检,均示真皮弹力纤维断裂。以上所见说明Joseph病具有明显的慢性周围神经病变及肌肉萎缩,病变程度与临床亚型及病程有关。

Peripheral nerve, muscle and skin biopsies were taken from 3 patients with Joseph disease, a heredodegenerative disease within the group of autosomal dominant ataxia. On the basis of the clinical symptoms, one patient was found to be type Ⅰ, one type Ⅱ, and one type Ⅲ. All cases shared the same pathological features, which consisted of a reduction of myelinated fibers, and uneven segmental narrowing of axonal diameter. EM. comfirmed that some axons were degenerated and surrounded by abnormally thick or laminated myelin and Schwann cells proliferated to some extent. Biopsies of the lower limb muscle from the 3 patients revealed variable degree of neurogenic atrophy which was more severe in type Ⅲ patient, in whom there was fibro-fatty replacement of muscle bundles, some of the remaining muscle fibers had a secondary degenerative changes such as myofilament disorganization, mitochondria degeneration and necrosis. In the skin taken from the 1st and 3rd cases, fragmentation of the elastic fibers of dermis were shown. Our findings support the view that involvement of peripheral nerves is a significant feature of Joseph disease. The severity of the changes varied considerably and appeared to depend on the subtype and duration of the disease.