Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0022116 (ischemia)
 91,303 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 78-year-old right-handed man with idiopathic orthostatic hypotension and a history of Hashimoto's thyroiditis presented over 2 years with recurrent, stereotyped attacks of bilateral limb shaking and metamorphopsia, which were precipitated by standing more than 3 or 4 minutes, or walking a few meters. These symptoms would resolve upon squatting or lying down and did not occur spontaneously at rest. He did not lose consciousness during the attacks. Speech, power, and sensation were preserved during these attacks. He had no history of seizures or habit of smoking. On examination, his supine blood pressure was 110/60 mmHg, and 62/27 mmHg on standing, with the pulse rate being 61/min and 66/min, respectively. Although he showed orthostatic hypotension, he did not complain of fainting or lightheadedness on standing alone. Magnetic resonance imaging of the brain revealed mild periventricular white matter changes and multiple small ischemic lesions bilaterally in the cerebral deep white matter. An electroencephalogram (EEG) showed mild, generalized slowing of nonspecific feature. EEG monitoring during a limb shaking episode showed no epileptiform abnormalities. Cerebral angiogram revealed a moderate degree of stenosis of the left internal carotid and a mild degree of stenosis of the right internal carotid, the right vertebral arteries and the left vertebral arteries. A single-photon emission computed tomography (SPECT) showed a moderate compromise of perfusion of the left internal carotid territory. After managing both hypotension and orthostatic hypotension with antihypotensive medication and levothyroxine sodium, his symptoms dramatically disappeared. Thus, we diagnosed that transient hemodynamic insufficiency due to combination of vascular stenosis and hypotension was the cause of these symptoms. Limb shaking is a well-described presentation of carotid artery occlusive disease and is usually unilateral. Bilateral limb shaking is rare and only 2 cases have been reported. Metamorphopsia is also a rare symptom of vertebrobasilar ischemia. We suggest that bilateral limb shaking correlates with hypoperfusion in the anterior border zones and metamorphopsia with that in the posterior border zones of both hemispheres. Hemodynamic TIA should be considered as a cause of movement disorders affecting four limbs.
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PMID:[Orthostatic hypotension with repeated bilateral limb shaking and metamorphopsia. A case of hemodynamic transient ischemic attacks]. 1108 97

A 35-year-old Korean woman had Hashimoto encephalopathy of varying MR imaging appearance over 5 years that ranged from that of transient subcortical ischemia to that of gradually evolving multifocal signal intensity change accompanied by unilateral cerebellar atrophy. Thus, the MR imaging appearance of Hashimoto encephalopathy may simulate an ischemic stroke, multiple tumors or granulomas, or even a degenerative process.
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PMID:MR findings in Hashimoto encephalopathy. 1514 Jul 25

In this article, we review the incidence and significance of seizures in well-established autoimmune disorders, including multiple sclerosis (MS), diabetes mellitus, celiac disease, thyroid disease, and systemic lupus erythematosus (SLE). The five following presentations discuss the incidence and possible pathogenesis of epilepsies that are found in these well-known autoimmune conditions. There is a large body of evidence describing the clinical presentation of seizures with MS and SLE, and showing that refractory epilepsy can complicate these already challenging disorders. However, the mechanisms involved are complex and generally not well understood. Neurologic syndromes, including seizure disorders, can also be a feature of celiac disease (CD) or subclinical CD, sometimes associated with cerebral calcification. The association between type-1 diabetes mellitus (T1DM) and epilepsy is unclear and requires more definitive epidemiologic analysis, despite the fact that antibodies to glutamic acid decarboxylase may provide a link between the two conditions. The association between thyroid disorders and encephalopathies, often termed Hashimoto's encephalopathy, is well known but the pathogenic significance of antithyroid antibodies in this condition is still debated. In general, the relationships between autoimmune mechanisms and seizures in these conditions are unclear; the seizures are likely to be caused by a variety of mechanisms, including ischemia, neuronal damage, and specific and nonspecific immunity.
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PMID:Systemic and neurologic autoimmune disorders associated with seizures or epilepsy. 2154 40

Objective To analyze the routine and functional magnetic resonance imaging(MRI) features and their potential pathological mechanisms of Hashimoto's encephalopathy(HE). Methods The clinical data and routine and functional MRI images of 30 HE patients who were treated in our center from January 2010 to April 2017 were retrospectively reviewed. Among them,15 patients were examined with contrast-enhanced MRI,16 with diffusion-weighed imaging(DWI),8 with magnetic resonance angiography,2 with magnetic resonance spectroscopy,and 1 with both arterial spin labeled perfusion imaging and diffusion tensor imaging. Seven patients had consecutive clinical and imaging data. The distribution,MRI signals,and functional MRI features of HE were analyzed. Results Among 30 HE patients,routine MRI showed negative results in 8 cases and abnormal findings in 22 cases. Among 22 abnormal cases,9 were characterized by small cerebral vascular disease and 13 had non-specific abnormalities;of these 13 cases,12 had lesions mainly located at the supratentorial white matter,11 had multiple lesions,and 2 had lesions complicated with cerebellum atrophy. The lesions were focal or confluent,punctate or small patchy,showing abnormal signal intensity with iso-or hypo-intensity on T1-weighed imaging,hyper-intensity on both T2-weighed imaging and fluid-attenuated inversion recovery. Most of the lesions had no enhancement(12/15). Among 7 cases with abnormalities on DWI,hyper-intensity on DWI and hypo-intensity on apparent diffusion coefficient were seen in 3 sudden acute cases and hyper-intensity on DWI and increased apparent diffusion coefficient value in 4 sub-acute or slow onset cases. Three cases showed localized intracranial artery stenosis. In 2 cases,magnetic resonance spectroscopy revealed significant lower N-acetylaspartate peak,higher choline peak,and visible lactate peak or lipid peak. Of 7 cases with follow-up data,3 cases had no change,4 cases had changes including softening lesions(2/4),remitted and relapsed lesions(1/4),and rapid progression of brain atrophy with negative finding on the initial MRI(1/4). Conclusion Routine MRI combined with functional imaging can show the features of HE from different perspectives. Routine MRI shows multifocal or confluent lesions in the white matter,mostly without enhancement,while functional imaging may reveal pathological characteristics of different phases of acute or chronic ischemia and demyelinating changes of HE. Combined with clinical data,MRI can differentiate HE from other diseases based on routine and functional MRI appearances.
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PMID:[Magnetic Resonance Imaging Features and Their Pathological Mechanisms of Hashimoto's Encephalopathy]. 3019 4

Background: Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point mutation with an adenine-to-guanine transition at position 3243 of the mitochondrial DNA (mtDNA; m.3243A>G) in the mitochondrially encoded tRNA leucine 1 (MT-TL1) gene. Other point mutations are possible and the association with polyglandular autoimmune syndrome type 2 has not yet been described. Case presentation: We present the case of a 25-year-old female patient with dysexecutive syndrome, muscular fatigue, and continuous headache. Half a year ago, she fought an infection-triggered Addison crisis. As the disease progressed, she had two epileptic seizures and stroke-like episodes with hemiparesis on the right side. Cerebral magnetic resonance imaging showed a substance defect of the parieto-occipital left side exceeding the vascular territories with a lactate peak. The lactate ischemia test was clearly positive, and a muscle biopsy showed single cytochrome c oxidase-negative muscle fibers. Genetic testing of blood mtDNA revealed a heteroplasmic base exchange mutation in the mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 (MT-ND4) gene (m.12015T>C; p.Leu419Pro; heteroplasmy level in blood 12%, in muscle tissue: 15%). The patient suffered from comorbid autoimmune polyglandular syndrome type 2 with Hashimoto's thyroiditis, Addison's disease, and autoimmune gastritis. In addition, we found increased anti-glutamic acid decarboxylase 65, anti-partial cell, anti-intrinsic factor, and anti-nuclear antibodies. Conclusion: We present an atypical case of MELAS syndrome with predominant symptoms of a dysexecutive syndrome, two stroke-like episodes, and fast-onset fatigue. The symptoms were associated with a not yet described base and aminoacid exchange mutation in the MT-ND4 gene (m.12015T>C to p.Leu419Pro). The resulting changed protein complex in our patient is part of the respiratory chain multicomplex I and might be the reason for the mitochondriopathy. However, different simulations for pathogenetic relevance are contradictory and rather speak for a benign variant. To our knowledge this case report is the first reporting MELAS syndrome with comorbid polyglandular autoimmune syndrome type 2. Screening for autoimmune alterations in those patients is important to prevent damage to end organs.
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PMID:New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2. 3129 67