CAJ | 학술논문

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是一类具有明显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.
목적 탐토간상체기병(NM)적림상화병리특점.방법 대1개상염색체은성유전NM가계림상자료진행회고성분석,병관찰기조직병리화초미결구.결과 4례환자균위출생시혹태인기기병,기중2례표현위운동발육지체,전신기육용적하강,기두면부특정포괄장검、장봉형취、고악궁;2례루급호흡,우신생인기사망.광경현시기섬유위축,Ⅰ형섬유우세화,개량Gomori삼색(MGT)화HE염색가견기섬유포질중홍염물질;전경현시기사배렬문란,기막하급핵주간상결구.결론 NM시일류구유명현림상화병리이질성적선천성기병,기진단의고전형적림상화병리특점.
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 myofibrils nucleus pyknosis, numerous subsarcolemmal and perinuclear rod-like structures, partial nemaline bodies connected with Z discs, and mitochondria vacuolation or disappearance. Conclusion NM is among congenital myopathies characterized by marked clinical and pathological heterogeneity. The diagnosis of NM should be based upon typical clinical and histopathological features.[Key words ] Congenital myopathy; Autosomal recessive; Clinical classification; Nemaline body