| Objective: To explore the clinical characteristics and prognostic factors in patients with epilepsy associated with mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes(MELAS).Methods: 34 patients with epilepsy associated with MELAS in the First Hospital of Jilin University during Jan.2001 and Jan.2018 were divided into the complete control group(n = 7)and the effective group(n = 12),invalid group(n = 15).At the same time,clinical data such as demography,clinical symptoms,seizures,laboratory tests,genetic testing,muscle biopsy,neuroimaging,EEG features,and prognosis of treatment were analyzed in detail.And statistical methods were used to analyze the prognostic factors.Results:(1)Among 34 patients,the ratio(male to female)was 1.43:1,and the average onset age was 22.6(0.5~57).The time from the onset of epilepsy to diagnosis was 0 to 12 years.Two cases of maternal inheritance,and the rest were circulated.(2)The most common initial symptoms were seizures(58.82%),headache(14.71%)and vision loss(8.82%).In addition to epilepsy,the clinical symptoms were often accompanied by headache(47.06%),vision loss(41.18%),exercise intolerance(38.24%),and hearing loss(32.35%).(3)The most common form of seizures was focal onset seizures(58.82%),followed by generalized onset seizures(44.12%)and unknown onset seizures.Some patients had multiple forms of seizures.Focal onset seizures were most common in patients with impaired awareness(35.29%)and motor onset(50%).The most common types of the latter one were clonic and tonic.All of the generalized onset seizures were motor onset,and the most common type was mainly tonic-clonic(26.47%).Of all patients,35.29% were accompanied by status epilepticus.(4)Among the 23 patients who received the EEG,91.30% showed EEG abnormalities.The abnormal waveforms were mainly distributed in the occipital lobe(69.57%),15 in the frontal lobe(65.22%),and 11 in the temporal lobe(47.83%).Focal epileptic discharge(69.57%)was the most common.The incidence of slow waves was 56.52%,slow background rhythms was 43.49%.(5)28 patients performed brain MRI,and 92.86% had obvious abnormalities.Most lesions were bilaterally distributed,and most of them were supratentorial(92.86%).The lesions were mainly concentrated in the temporal lobe(85.71%),parietal lobe(85.71%),and occipital lobe(75%).Most patientshad brain atrophy(64.29%),and some patients had brain tissue calcification(14.29%).(6)The treatment were symptomatic supportive therapy and antiepileptic therapy.All patients took antiepileptic drugs,73.53% were monotherapy,26.47% were multidrug therapy;94.12% had good compliance;47.06% had used high mitochondrial toxicity antiepileptic drugs.The overall prognosis was poor,and the inefficiency of treatment of epilepsy was 44.12%.Other clinical symptoms were mainly motor intolerance and mental retardation.(7)The rates of brain atrophy(P = 0.026),status epilepticus(P <0.001)and the use of antiepileptic drugs with high mitochondrial toxicity(P = 0.015,)in the invalid group were 73.3%,78.6%,73.3%,and the difference between groups was statistically significant.Conclusion:(1)Epilepsy associated with MELAS was more common in male patients.The age span of onset was large(0.5 to 57 years),and the average age of onset was 22.6 years.Some patients' diagnosis were difficult.The most common first symptoms were epilepsy,headache,and vision loss;the clinical manifestations were diverse.(2)Patients with epilepsy and MELAS had various seizures forms.Focal seizures is the most common type,and some patients had multiple seizure types.EEG were usually manifested as epileptiform discharges,slow waves,and slowbackground EEG rhythm.The abnormal wave were mainly concentrated in the occipital,frontal and temporal lobes.(3)The prognosis of patients with epilepsy and MELAS is poor,and its poor prognosis was related to brain atrophy,status epilepticus,the use of antiepileptic drugs with high mitochondrial toxicity. |
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