HOME > Weekly Case > Weekly Case
Weekly Case
종결
Case No. 527
2019-08-01~2019-08-31
출제자 : 강경미
Hit : 472
| Period | 2019-08-01~2019-08-31 |
|---|---|
| Diagnosis | MELAS |
| Clinical information | M/23 Lt. U/E parasthesia (1WA), Lt. facial spasm (1DA) 진단은? Figure 6-8은 3개월 FU image임 |
| Discussion | (MELAS m.3243A>G 돌연변이가 양성이었던 case) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Inherited disorder of interacellular energy production by point mutation in mtDNA Demographics Age: onset of stroke-like episodes usually occurs in childhood/early adulthood - Mean age onset = 15 year/ 90% symptomatic by 40 years Manifestation Recurrent stroke-like events with either permanent or reversible neurologic deficit PEO, DM, deafness, cardiomyopathy Imaging features • Acute: stroke-like cortical lesions - shifting spread (appearance, disappearance, reappearance elsewhere) is classic - lesions cross typical vascular territories - Gyral swelling Location stroke-like: parietooccipital > temporoparietal calcifications: basal ganglia • Chronic: supra/infratentorial atrophy, deep WM, BG lacunar infarct |
| Correct answer |
Correct Answer
Semi-Correct Answer |