Mitochondrial cytopathy with rare double mutation of mitochondrial gene:one case report and literature review
XU Tian
SHI Zhi-hong
ZHAO Wen-juan
Abstract：Objective To retrospectively analyze the clinical,imaging,pathological and genotypic characteristics of one case of mitochondrial cytopathy with rare double mutation of mitochondrial gene.Methods and Results The 14-year-old male had double eyelid ptosis for 12 years,walking instability for 11 years,and visual acuity loss for 8 years.The clinical manifestations were external ophthalmoplegia,optic atrophy,pyramidal tract damage,and multiple peripheral neuropathy.Serum lactic acid was increased(3.30 mmol/L).The MRI showed abnormal hyperintensity in bilateral basal ganglia region.EMG showed multiple peripheral neuropathy(mainly motor nerve).The pathological examination of the biceps biopsy include HE staining,succiante dehydrogenase(SDH)staining,modified Gomori trichrome(MGT)staining and cytochrome C oxidase(COX)staining all showed no specific change.Genetic testing was performed for the presence of the m.9176T>C mutation in MT-ATP6 gene and the m.11778G>A mutation in MT-ND4 gene,which led to a definitive diagnosis of mitochondrial gene double mutation mitochondrial cytopathy consistent with the clinical manifestations of Leber's hereditary optic neuropathy(LHON)superimposed on Leigh's syndrome(LS).The mother of the patient had no clinical syptoms but also carried the double mutation of mitochondrial gene.Conclusions Mitochondrial cytopathy is rare and exhibit diverse clinical manifestations,which the diagnosis requires a combination of clinical manifestations,laboratory examination,muscle tissue biopsy,and genetic testing for confirmation.
Keywords：Mitochondrial diseasesOptic atrophyhereditaryLeberLeigh diseaseGenesMutationMaternal inheritance
Publication Date：2025-10-25
Online Publishing Date：2025-11-26(First online date of this platform, not the publication date of the document)
Pages：8( 949-956 )