A case report of lipid deposition myopathy with ETFDH gene mutation
Objective To analyze and report the clinical data,pathological features and genotyping characteristics of a case of lipid storage myopathy(LSM)with electron transfer flavoprotein dehydrogenase(ETFDH)gene mutation,so as to provide reference for early diagnosis and treatment.Methods The clinical manifestations,laboratory examination,neurophysiology,pathological features of muscle biopsy,genotyping and related treatment of a patient with LSM diagnosed by pathological examination and gene detection were analyzed retrospectively.Results In this case,LSM present with chronic onset,characterized by muscle weakness and exercise intolerance,significant elevation of serum muscle enzymes,multiple vacuoles appearing in muscle fibers during muscle biopsy,and a significant increase in fat droplets within muscle fibers.Enzyme histochemical examination showed nicotinamide adenine dinucleotide-tetrazolium reductase(NADH-TR),succinate dehydrogenase(SDH),non-specific esterase(NSE),and immunohistochemistry(CD3,CD20,CD4,CD8,CD68,CD79α,CD38)were all normal.In this case,there was a mutation in the ETFDH gene,with a pathogenic mutation site of c.389A＞T(exon3,NM_004453),resulting in a change in amino acid 130 to p.D130V,and the suspected mutation site was c.770A＞G(exon7,NM_004453).resulting in the change of amino acid No.257 from tyrosine to cysteine(p.Y257G).Conclusion The muscle enzyme levels of LSM patients in this case fluctuated with clinical symptoms,and there were no abnormalities in electromyography and muscle magnetic resonance imaging.Muscle biopsy was confirmed,and early genetic testing was carried out to facilitate typing diagnosis and provide genetic counseling,providing a basis for timely diagnosis and treatment.
万方数据
维普
