Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a 68-year-old female with Creutzfelt-Jakob disease (CJD) presenting hyperparathyroidism. She was suspected as Creutzfelt-Jakob like syndrome at her initial visit to our hospital because of progressive dementia and high level of serum calcium. Finally she was diagnosed as having CJD by the clinical symptoms including progressive dementia and myoclonus and the characteristic patterns of brain CT and electroencephalogram (EEG). CJD presents a variety of symptoms including progressive dementia, apathy and myoclonus. Hyperparathyroidism and toxicity of lithium, delirium and bismuth have been reported to induce similar symptoms of CJD, which are called Creutzfelt-Jakob like syndrome. Therefore, the diagnosis of CJD would be difficult in cases with CJD accompanied with Creutzfelt-Jakob like syndrome. It is rare for otolaryngologists to examine patients with dementia like CJD. However, we have to keep CJD in mind in the diagnosis of hyperparathyroidism.
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PMID:Creutzfelt-Jakob disease presenting hyperparathyroidism. 1080 21

Introduction: Uremic syndrome of chronic kidney disease (CKD) is a term used to describe clinical, metabolic, and hormonal abnormalities associated with progressive kidney failure. It is a rapidly growing public health problem worldwide. Nervous system complications occur in every patient with uremic syndrome of CKD. Areas covered: This review summarized central and peripheral nervous system complications of uremic syndrome of CKD and their pathogenic mechanisms. They include cognitive deterioration, encephalopathy, seizures, asterixis, myoclonus, restless leg syndrome, central pontine myelinolysis, stroke, extrapyramidal movement disorders, neuropathies, and myopathy. Their pathogenic mechanisms are complex and multiple. They include (1) accumulation of uremic toxins resulting in neurotoxicity, blood-brain barrier injury, neuroinflammation, oxidative stress, apoptosis, brain neurotransmitters imbalance, ischemic/microvascular changes, and brain metabolism dysfunction (e.g. dopamine deficiency), (2) metabolic derangement (as acidosis, hypocalcemia, hyperphosphatemia, hypomagnesemia, and hyperkalemia); (3) secondary hyperparathyroidism, (4) erythropoietin and iron deficiency anemia, (5) thiamin, vitamin D, and other nutritional deficiencies, (6) hyperhomocysteinemia, and (7) coagulation problems. Expert commentary: Nervous system complications of uremia contribute to the patients' morbidity and mortality. Optimizing renal replacement therapy, correction of associated metabolic and medical conditions, and improved understanding of possible pathogenic mechanisms of these complications is a major target for their prevention and treatment.
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PMID:Neurologic conditions and disorders of uremic syndrome of chronic kidney disease: presentations, causes, and treatment strategies. 3050 41