常染色体隐性遗传杆状体肌病一个家系的临床与病理分析  

Clinical and pathologic analysis of an autosomal recessive kindred with nemaline myopathy

作　　者：江泓[1] 肖彬[1] 贾丹丹[1] 张宁[1] 徐锡萍[2,3] 唐北沙[2,4] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]中南大学神经退行性疾病研究中心 [3]中南大学湘雅医学院电镜室 [4]中国医学遗传学国家重点实验室

出　　处：《中华医学杂志》2009年第47期3316-3319,共4页National Medical Journal of China

基　　金：国家自然科学基金（30971585、30871354、30710303061、30400262）;湖南省自然科学基金重点项目（08JJ3048）

摘　　要：目的探讨杆状体肌病（NM）的临床和病理特点。方法对1个常染色体隐性遗传NM家系临床资料进行回顾性分析，并观察肌组织病理和超微结构。结果4例患者均为出生时或胎儿期起病，其中2例表现为运动发育迟滞，全身肌肉容积下降，其头面部特征包括长脸、帐蓬形嘴、高腭弓；2例累及呼吸，于新生儿期死亡。光镜显示肌纤维萎缩，I型纤维优势化，改良Gomori三色（MGT）和HE染色可见肌纤维胞质中红染物质；电镜显示肌丝排列紊乱，肌膜下及核周杆状结构。结论NM是一类具有明屁临床和病理异质性的先天性肌病，其诊断依靠典型的临床和病理特点。Objective To investigate the clinical, pathological and ultrastructural features of nemaline myopathy （ NM ） . Methods The clinical manifestations of four patients in a rare autosomal recessive kindred with nemaline myopathy were analyzed retrospectively. Biopsied specimens of left gastrocnemius from the proband were detected and observed through light microscope using enzymatic histochemical methods for histopathological changes and through electron microscope for ultrastructural features. Results Four ＇affected siblings in this kindred had an onset at birth or fetal stage, among whom two case were respiratory independent with delayed attainment of motor milestones and general muscle atrophy complying with typical form of NM, whereas the other two did not achieve adequate spontaneous movement or breathing, and died at neonatal period according with severe form of NM. Other clinical characteristics of elongated face, tent-shaped mouth and high-arched palate were also found. The proband had normal serum muscle enzymes and the karyotypic analysis showed a normal G band. Brain magnetic resonance image （MRI） indicated no abnormality. Electromyogram （EMG） showed typical muscle-derived damages of biceps, triceps, brachioradial muscle, vastus medialis muscle, anterior tibial muscle and gastrocnemius with normal motor conduction velocity of bilateral tibial nerves and common peroneal nerves. Myofibrillar atrophy was found through light microscopy with fiber type 1 predominance shown by ATP enzyme staining, yet without indication of lipid or glycogen deposition by ORO or PAS staining. Modified gomori trichrome （MGT） treatment resulted in dark-red staining of nemaline bodies in myofibril cytoplasm. And it was also observed as purple-red staining followed by hematoxylin-eosin （HE） treatment. Electron microscopic observation by lead-uranium double staining showed widened interstitial myofibrils, focal myofilament disorganization, partial myofilament atrophy, focal dissolution or necrosis, partial myofib

关 键 词：先灭性肌病 常染色体隐性遗传 临床分型 杆状体 

分 类 号：R746[医药卫生—神经病学与精神病学]