Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0162671 (MELAS)
 587 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 29-year-old man with mitochondrial encephalomyopathy caused by partial deficiency of mitochondrial NADH-ubiquinone oxidoreductase (Complex I) is described. Clinical manifestations were characterized by generalized convulsion, dementia and stroke-like episodes consisting of hemianopsia, Gerstmann's syndrome and visual hallucination. Blood and cerebrospinal fluid lactate and pyruvate levels were elevated. Biochemical studies on a muscle biopsy specimen revealed partial deficiency of Complex I activity, and decreases in the 75-kDa and the 20-kDa subunits of Complex I by immunoblotting analysis. Serial brain CT scans revealed multiple low-density areas with fluctuating densities. Single photon emission tomographic study revealed preservation of blood circulation where CT scans showed diminished density in acute stage, suggesting the presence of abnormal cellular metabolism rather than vascular occlusion as the basic mechanism of his stroke-like episodes. Pathogenesis of neurological manifestations in MELAS is discussed with reference to the possible involvement of free radicals in inducing brain damage.
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PMID:Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with special reference to the mechanism of cerebral manifestations. 251 13

A case of visual hallucination, headache and left hemiparesis is reported. The patient had a history of recurrent attacks of similar semiology for the previous 15 years. MRI brain revealed a cortical hyperintensity on T2W, FLAIR and diffusion weighted imaging (DWI) in the right cerebral hemisphere with a normal ADC (apparent diffusion coefficient) map and MR angiogram. Detailed workup for MELAS was negative. A diagnosis of sporadic hemiplegic migraine was made and he was managed conservatively. He made a gradual complete recovery over 2 weeks. He was discharged on flunarizine for prophylaxis and has remained asymptomatic over the ensuing 4 months. This interesting condition is reviewed and discussed herein.
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PMID:Sporadic hemiplegic migraine: report of a case with clinical and radiological features. 1881 Mar 16

A 55-year-old woman was diagnosed with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). She was referred for Tc-HMPAO brain SPECT because of visual hallucinations, which were suspected to be related to epileptic seizures. Ictal SPECT images showed remarkable hyperperfusion in the left occipital cortex, which returned to near-normal status on the interictal SPECT images after treatment with anticonvulsants. It is very rare to see such an ictal SPECT image of epileptic or epilepsy-like disorders, especially in the setting of MELAS syndrome with visual hallucination.
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PMID:Ictal and interictal 99mTc-HMPAO brain SPECT of a MELAS case presented with epilepsy-like visual hallucination. 2288 77