Non-progressive congenital myopathy is a group of muscle diseases occurring at birth or during teenage years. A number of new reports of congenital myopathy, such as homogeneous bodies myopathy, muscle quality control myopathy and type 1 fiber predominance have recently been reported, but they lack of sufficient quantity and constant clinico-pathologic manifestations. This paper reports two cases of congenital myopathy with type 1 fiber predominance confirmed by muscle biopsy. The clinical manifestations of the two children (a 4.5-year-old girl and an 11-year-old boy) included non-progressive symptoms of muscle weakness, skeletal deformities and other clinical features of congenital myopathy. The physical examinations showed a long face or figure and funnel chest or kyphosis/scoliosis, high palatal arch and wing-like shoulder. Serum levels of creatine kinase were normal but slightly elevated serum lactate dehydrogenase levels were noted in the two children. The skeletal muscle biopsy by ATPase staining showed that type 1 fibers accounted for more than 90% of the total number of muscle fibers. No other abnormal pathological changes, such as central cores, muscle tube and central nuclei, were found in the two children.
Key words
Congenital myopathy /
Type 1 fiber predominance /
Muscle biopsy /
Child
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
［1］李大年, 郑国玲. 进行性肌营养不良症的骨骼肌病理［J］. 临床神经病学杂志，2005, 18(4): 310-312.
［2］Bodensteiner JB. Congenital myopathies［J］. Muscle Nerve, 1994, 17(2):131-144.
［3］Goebel HH. Congenital myopathies［J］. Semin Pediatr Neurol, 1996, 3(2): 152-161.
［4］Brooke MH, Engel WK. The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies［J］. Neurology, 1969, 19(6): 591-605.
［5］Brook MH. Congenital (more or less) muscle disease［M］// Brooke MH. A clinician's view of neuromuscular disease. 2nd ed. Baltimore: Williams & Wilkins, 1986: 340-380.
［6］Dubowitz V.Congenital myopathies［M］// The Floppy Infant. 2nd ed. London: WILLIAM Heinemann Medical, 1980: 33-71.
［7］Sakamoto HM, Yoshioka M, Tsuji M, Kuroki S, Higuchi Y, Nonaka I. A case of congenital neuromuscular disease with uniform type 1 fibers［J］. Brain Dev, 2006, 28(3): 202-205.
［8］Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance［J］. Ann Neurol, 2006, 59(3): 546-552.
［9］沈宏锐，胡静. 先天性肌病的病理研究进展［J］. 临床荟萃，2010, 25(3): 260-262.
［10］Kyriakides T, Silberstein JM, Jongpiputvanich S, Silberstein EP, Walsh PJ, Gubbay SS, et al. The clinical significance of type 1 fiber predominance［J］. Muscle Nerve, 1993, 16(4): 418-423.
［11］丁金勇，吕军，刘舰.进行性肌营养不良症误诊分析［J］.临床误诊误治，2007, 20(7): 76-77.
［12］焉传祝，王书运，刘淑萍，李大年，吴金玲. 代谢性肌病的超微病理诊断［J］. 电子显微学报，1999，18(3):326-331.
PDF(1018 KB)
