Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports

Abstract

BACKGROUND Mitochondrial encephalomyopathy (ME) is a multisystem metabolic disease that primarily affects the central nervous system and skeletal muscle. It is caused by mutations in mitochondrial or nuclear DNA, resulting in abnormal mitochondrial structure and function and insufficient ATP synthesis. The most common subtype is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome. In recent years, reports of MELAS syndrome have increased but familial cases are rare. CASE SUMMARY We report a case of familial MELAS syndrome. Cases 2 and 3 are sisters and case 1 is their nephew. All are short in stature and showed stroke-like episodes with rapid onset and no obvious symptoms such as paroxysmal headache, aphasia, or blurred vision. After admission, blood lactate levels were significantly higher than normal. The patients underwent magnetic resonance imaging of the head. Cases 1 and 2 were considered to have ME, whereas case 3 was considered to have a space-occupying lesion in the left temporal lobe. Pathological evaluation showed no obvious tumor cells in the brain lesions of case 3. Muscle biopsy or genetic test results were consistent with ME. The patients were diagnosed with MELAS syndrome and their symptoms improved with intravenous infusions of coenzyme Q10, coenzyme A, vitamin B, and vitamin C. At the 6 mo follow-up, there was no recurrence or progression. CONCLUSION When a patient has MELAS syndrome, familial MELAS syndrome should be considered if related family members have similar symptoms.

MELAS with mtDNA 3243A>G mutation presenting as bilateral symmetric occipital and temporal cortices lesions: a case report and literature review

“…Symmetric cortical involvements were seen in 15(6.5%) patients. Of 15 patients, 7(43.8%) involved bilateral symmetric temporal lobes 4-10 ,1(6.7%) involved bilateral symmetric temporo-parietal-occipital lobes 11 , 1(6.7%) involved bilateral symmetric frontal-occipital lobes 12, , 2(13.3%) involved bilateral symmetric frontal -temporo-parietaloccipital lobes 13,14 , 1(6.7%) involved bilateral symmetric frontal -temporo-occipital lobes 15 , 1(6.7%) involved bilateral symmetric frontal-temporo lobes 16 , 1(6.7%) involved bilateral symmetric basal ganglia 17 , 1(6.7%) involved bilateral symmetric precentral gyrus 18 .Non-simultaneous bilateral stroke-like lesions involving bilateral cerebral hemispheres were seen in 27(11.7%) eligible patients.…”