Congenital myopathy with type 1 fiber predominance in two children / 中国当代儿科杂志

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.

Clinical and pathologic features of melanocytic lesion of the central nervous system / 中南大学学报(医学版)

OBJECTIVE@#To investigate the clinical and pathologic features of melanocytic lesion of the central nervous system.@*METHODS@#We analyzed the clinical features, neuroimages, and operational and neuropathological findings of 2 patients of neurocutaneous melanosis and 4 patients of primary leptomeningeal melanoma.@*RESULTS@#All the 6 patients had the common clinical features of intracranial hypertension and epilepsy. Brain CT and MRI showed abnormal signals. More melanin pigment nevi were found on the skin of the 2 patients subjected to neurocutaneous melanosis. The other 4 patients subjected to primary leptomeningeal melanoma had no melanin pigment nevus on the skin, but the brain section displayed positive meningeal melanoma.@*CONCLUSION@#Intracranial hypertension and epilepsy are the main clinical manifestations of melanocytic lesion of the central nervous system, and cutaneous lesion and radiological findings are very important for the diagnosis.