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Case No. 335
2014-05-01~2014-05-31
출제자 : 안성수
Hit : 335
| Period | 2014-05-01~2014-05-31 |
|---|---|
| Diagnosis | MELAS (Mitochondrial myopathy-encephalopathy-lactic acidosis-and stroke-like episodes) |
| Clinical information | M/32 C.C.: Dysarthria |
| Discussion | Imaging findings - Recent infarcts with/without diffusion restriction Involving the right temporal lobe, left occipitotemporal lobe, and cerebellum crossing vascular territories - Patent cerebral arteries - Relatively young, male pt. < MELAS > • Mitochondrial myopathy-encephalopathy-lactic acidosis-and stroke-like episodes SD • Familial disease that may have maternal inheritance inherited disorder of intracellular energy production caused by point mutation in mitochondrial DNA • Clinical features m/c onset during the 2nd decade Classic MELAS triad : Lactic acidosis, seizures, stroke-like episodes Nausea, vomiting, headaches, DM, short stature, muscle weakness, sensorineural hearing loss, myopathy, and sudden neurological deficits • Imaging findings Multiple cortical/subcortical infarct-like lesions Distribution of the brain lesions incongruent to a vascular territory Predilection to the posterior brain (parieto-ocipital, tempro-occiptial) Appearance-resolution-reappearance of abnormal areas on f/u. MRS: : Lactate peak (“doublet”) at 1.3ppm Often shows elevated lactate and pyruvate concentrations on blood and spinal fluid examination. |
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