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

Focal status epilepticus and epilepsia partialis continua (FSE-EPC) are most frequently seen with chronic focal progressive encephalitis of Rasmussen and Russian spring-summer encephalitis. FSE-EPC may be the presenting feature of nonketotic hyperglycemic diabetes mellitus but is more often noted as a late complication especially if there is a coexistent cerebral lesion such as cerebral infarction. FSE-EPC may be related to multiple sclerosis, primary or metastatic brain tumors, the MERRF-MELAS syndrome, benign epilepsy of childhood with rolandic spikes, and in some adults with acquired aphasia. The physiological origin of the myoclonic jerks seen in EPC is cortical and may be either spontaneous or provoked by the joint position of the affected limb. The treatment of FSE-EPC is influenced by the underlying disorder.
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PMID:Focal status epilepticus and epilepsia partialis continua in adults and children. 768 71

A 55-year-old woman, who had two episodes of difficulty in putting a key into a keyhole probably due to optic ataxia at age 52 and 54 years old, developed speaking errors and was admitted to our hospital. She was 152.5 cm in height and 52.5 kg in weight. Neurological examination revealed right homonymous hemianopsia and sensory aphasia. A CSF examination revealed lymphocytic pleocytosis of 88/microliter. Serum lactate and pyruvate were remarkably increased after an aerobic exercise test. A few ragged-red fibers were present in the biopsied brachial biceps muscle. Brain MRI by FLAIR method showed scattered high signal lesions in the left temporal lobe, bilateral parieto-occipital lobes, left insular cortex and left thalamus. The left superficial temporal lesion was enhanced by gadolinium-DTPA. The proton MRS demonstrated the lactic acid peak as well as the decrease of NAA/choline ratio (0.38) in the left parieto-occipital region. Thus, she was diagnosed as a case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and successfully treated with ubidecarenone (150 mg/day). Six months later, she again developed seizure, right hemiparesis and deterioration of aphasia and presented again CSF lymphocytic pleocytoses of 15/microliter. Brain MRI demonstrated new lesions in the left temporoparietal lobes, left insular cortex and left corona radiata. Therefore, CSF pleocytosis appeared to be associated with stroke-like episodes in this case. Although the mechanism of CSF pleocytosis remains to be elucidated, it may involve the breakdown of blood-brain barrier caused by mitochondrial dysfunction. Otherwise, an inflammatory process similar to that in cases of Leber disease, who developed multiple sclerosis-like additional lesions in the central nervous system, may also take place in MELAS.
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PMID:[A case of MELAS showing CSF pleocytosis associated with stroke-like episodes]. 986 8

Changes in cerebral white matter at CT or MRI have been reported in patients with migraine, especially in those with migraine with aura. Similar pictures may be present in asymptomatic subjects, and their nature is not completely understood, but their infarct-like nature is strongly suggested. Clinicians play an important role in the evaluation of those migraine patients in whom these nonspecific abnormalities are present. We suggest ruling out specific syndromes in which migraine attacks are associated with white matter changes (CADASIL, MELAS, multiple sclerosis and central nervous system vasculitis), as well as evaluating the presence of different vascular risk factors (genetic prothrombotic factors, patent foramen ovale, use of oral contraceptives, etc.). Their possible causative role in MRI lesions and in enhancing the risk of a negative clinical evolution must be considered in each individual case.
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PMID:The role of the clinician in interpreting conventional neuroimaging findings in migraine patients. 1750 56