| Objective:Retrospective analysis of clinical data of 24 patients of MELAS,to conclude the clinical manifestation,imaging,pathological features and gene mutations hot spots,evaluating its diagnosis value of the disease,to raise clinician's awareness of the disease and improve the level of diagnosis,providing early diagnostic system for MELAS syndrome,avoiding misdiagnosis.Materials and methods:According to the diagnosis criterion of MELAS syndrome proposed by Yatsuga in 2002,We collected the clinical data(including clinical manifestations,biochemiscal detection,electrophysiological detection,imaging detection,muscle pathologies changes and gene testing results)of 24 patients with this disease,admitted to Jilin University First Hospital Department of Neurology clinic and hospital patients from February 2003 to December 2016.result:(1)General information: In 24 MELAS syndrome patients,17 were males,accounting for 70.8%;7 were females,accounting for 29.2%.Male to female ratio was 2.43: 1.The treatment age 9 to 58 years,the onset age of 7.5to 58 years.The longest course was 20 year,while the shortest 7 days.2 cases have family history.(2)Clinical features:Seizures as the first symptom appeared in 9paitents,common of all.Speech disorder as the first symptom appeared in 4patients,visual impairment in 3 patients,headache in 3 paitents,limb movement disorder in 1 patient,limb weakness in 2 patient,mental disorder in2 patients.In the course,strke-like episodes was noted in 23 patients,including hemiplegia,hemianopsia or cortical blindness,aphasia(sensory or motor)slurred speech,and so on.Seizures was noted in 16 patients,visual impairment in 16 patients,headache in 9 patients,nausea and vomiting in6 patients,psychosis in 2 patients,unresponsiveness in 5 patients,hearing loss in 8 patients,short stature in 5 patients,memory loss in 9 patients,intolerance of fatigue in 8 cases.MELAS symptom associated with diabetes were 8patients,and with renal damage 3 patients.(3)Laboratory and elecrophysiology characteristics: Of the 24 patients,there were 10 patients underwent static serum lactic acid detection.its results show higher than normal.Of the 24 patients,6 were electromyogram examination,3 patients of who show myogenic damage,2 patients neurogenic damage,1 patient normal.(4)Imaging characteristics: head MRI lesions: frontal lobe was noted in4 cases,temporal lobe in 16 cases,parietal lobe in 11 cases,occipital lobe in16 cases,lobus insularis in 1 case,cerebellum in 4 cases,brain stem in 1 case,corona radiate in 1 case.(5)Muscle pathological characteristics: 24 cases were underwent skeletal muscle biopsy,17 cases of HE staining can be seen muscle fiber membrane or edge was basophilic;20 cases of MGT staining seen ragged red fiber(RRF);16 cases of NADH staining seen sarcolemma strong stained;17cases of SDH staining can be seen ragged blue fiber(RBF),6 cases of SDH staining can be seen SSV phenomenon.(6)Genetic testing features: Of the 24 patients,5 had molecular genetic testing,4 cases of who had A3243 G mutation,and 1 did not have positive results.Conclusion:(1)MELAS syndrome was more common in adolescents.Seizures as the first symptom is the most common of all,stroke-like episodes was the core clinical manifestation in MELAS syndrome.(2)Imaging features of MELAS syndrome:lesions was mainly distributed in the temporal lobe,top,occipital lobe,parietal lobe and occipital lobe;lesions was variable,changeable,reversible and not according to vascular distribution characteristics.(3)Skeletal muscle biopsy manifestations of MELAS syndrome was MGT staining can be seen a large number of RRF;SDH staining can be seen RBF and SSV phenomenon in muscle interstitial,COX staining can be seen positive muscle fibers or negative muscle fibers.(4)Skeletal muscle biopsy and gene detection are important diagnostic basis for this disease;gene mutation hot spots is still common in mitochondrial DNAA3243 G mutation. |
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