Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Orbital infarction syndrome is defined as ischemia of global intraorbital structures such as extraocular muscles, optic nerves, and retina. The most common cause of this syndrome is carotid arterial occlusion. Other causes include vasculitis, vasospasm, and compression of intraorbital circulation. There has never been reported a case of orbital infarction syndrome in nephrotic syndrome patient. We present a case of 42-year-old Thai man with underlying disease nephrotic syndrome presented with abrupt onset of headache at left temporal area, horizontal diplopia, limitation of eye movement in all directions, ptosis, and blurred vision on the left eye. He was treated with pulse methylprednisolone intravenously for 3 days. Leg edema was improved however, the eye symptoms persisted. There was no evidence of hypercoagulable state. Magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) revealed loss of signal intensity at left internal carotid artery from base of skull to intracavernous part. Cerebral angiography demonstrated complete occlusion of left common carotid artery. After the anticoagulant treatment, his symptoms were gradually improved. The cause of extensive carotid arterial occlusion in this patient is most likely from hypercoagulable state. Although it was negative for hypercoagulable state evidence, the authors assume that the high dose steroid treatment could lead to remission of nephrotic syndrome and resulting in the resolution of hypercoagulable state.
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PMID:Orbital infarction syndrome in nephrotic syndrome patient with extensive carotid arteries occlusion. 1818 41

Mitochondrial disorder (MtD) is usually a multisystem disease due to impaired mitochondrial energy production. Severe hypokalemia resulting in muscle weakness and rhabdomyolysis has not been reported as a phenotypic feature of MtD. Here we describe a 60-year-old male patient who developed myalgias followed by generalized muscle weakness a few days before admission. Symptoms were attributed to severe hypokalemia that occurred after the patient had discontinued spironolactone, a competitive antagonist of the aldosterone receptor, four months earlier on his own judgment. Spironolactone was given for 10 years to treat suspected primary hyperaldosteronism (Conn's syndrome). He presented with myopathic face, bilateral ptosis, hypertelorism, brachydactylia, weakness of the axial and limb muscles, and bilateral leg edema. Hypertelorism and brachydactylia are known as physical traits of MtD. Laboratory investigations revealed hypokalemia of 1.7 mmol/l and elevated serum levels of creatine kinase (2,772 U/l). Electrocardiogram showed sinus rhythm, left bundle-branch-block, repolarization abnormalities, and prolonged QTc (571 ms), which is associated with a propensity to ventricular arrhythmias. Diagnostic work-up revealed bilateral adenomas of the suprarenal glands. Conn's syndrome was regarded as a manifestation of MtD, since MtDs are frequently associated with endocrine abnormalities. The patient also presented with occasional double vision, ptosis, renal insufficiency, bilateral renal cysts, hypertriglyceridemia, arterial hypertension, and hypertrophic cardiomyopathy. Taken together, we have made the diagnosis of MtD. In conclusion, MtD may be associated with adrenal adenomas, which may cause severe symptomatic hypokalemia, manifesting as generalized weakness and myalgias due to rhabdomyolysis. Endocrine involvement may be a phenotypic feature of MtD.
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PMID:Severe hypokalemic paralysis as a manifestation of a mitochondrial disorder. 2398 82