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Case No. 692
2024-07-01~2024-07-31
출제자 : 이명환
Hit : 501
| Period | 2024-07-01~2024-07-31 |
|---|---|
| Diagnosis | MELAS |
| Gender |
|
| Age | 33 |
| Clinical information | F/33 C.C: 글씨를 못써요, 우측 팔이 내 마음대로 움직이지 않고 우측시야가 잘 안보여요 History: 초등학생 때부터 seizure로 진료 중 |
| Discussion | MELAS Mitochondrial disease with encephalomyopathy, lactic acidosis and stroke-like episodes Childhood or early adulthood (90% before 40) Relapsing-remitting course (Respiratory chain → Metabolism) - stroke like episodes, seizures, lactic acidosis - encephalopathy, dementia Diagnosis: Muscle biopsy - Detect mtDNA variant in blood or muscle(m.3243A>G) Image findings: CT : - Symmetrical calcifications in the basal ganglia, parietal and occipital focal hypodensities and generalized atrophy with prominent dilated occipital horns with cross-over vascular territory MRI : - Gyral swelling, gyriform cortical diffusion restriction (previously thought not to occur in MELAS but increasingly recognized in early imaging), subcortical white matter T2 FLAIR hyperintensity with elevated ADC values with cross-over vascular territory - Subacute phase, cortical lesions may develop T2 hypointensity (“black toenail sign”) and T1 gyriform hyperintensity, in keeping with cortical laminar necrosis MR spectroscopy : Elevated lactate |
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