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)

Upper lid and vertical eye movements are usually preserved in patients with the "locked-in" syndrome, a condition manifested by anarthria, spastic quadriparesis, and intact mental function, and caused by lesions in the ventral portion of the pons. We describe a presumed mesencephalic "locked-in" syndrome in a patient who had total bilateral ptosis at the onset of his disease and later on experienced complete bilateral oculomotor nerve paralysis.
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PMID:Quadriparesis and nuclear oculomotor palsy with total bilateral ptosis mimicking coma: a mesencephalic 'locked-in syndrome"? 50 30

Two young patients are described who made complete recovery from locked-in syndrome (LIS) after snakebites. LIS was a presenting feature in a patient of presumed snake bite who showed complete response to polyvalent Anti-snake venom (ASV). This case suggests that elapid snake bite should be suspected in unresponsive patient found in early morning in endemic areas of snake bite in monsoon season. The second case was admitted in complete LIS state with history of rapidly progressive ptosis, diplopia, ophthalmoplegia, bulbar symptoms and quadriparesis, 6 hours after snake bite. Complete improvement by ASV in second patient highlights the need of differentiation of complete LIS from coma and brain death in patient of snake bite, as former have good prognosis.
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PMID:Locked-in syndrome in snakebite. 1847 15

We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac procedure and mimicking a myasthenic crisis. A pathogenic mutation in the C10orf2 (PEO1) gene was confirmed. The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms.
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PMID:Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis. 2401 82

Co-morbid auto-immune disorders may affect 0.2% of the population. We present the clinical and electrodiagnostic findings of 2 patients with inflammatory bowel disease and myasthenia gravis from a Brazilian cohort of 218 inflammatory bowel disease patients. Patient 1: A 40year-old man was diagnosed with ulcerative colitis at age 37 and underwent total colectomy 3years later. After prednisone was tapered, he experienced a clinical relapse and was diagnosed with Crohn's disease. He then developed quadriparesis, bilateral ptosis, dysphagia and dysarthria. Patient 2: A 41year-old woman (diagnosed with ulcerative colitis and primary sclerosing cholangitis at age 35) developed speech impairment and ptosis. On both patients, symptoms quickly progressed over few weeks. Myasthenia gravis was diagnosed and confirmed by abnormal repetitive nerve stimulation and elevated anti-acetylcholine receptor antibody titers. Pyridostigmine and prednisone successfully treated both patients. Myasthenia gravis prevalence over 9years was 0.9%. Myasthenia gravis clinical course was not significantly modified by inflammatory bowel disease relapses and should be suspected with new onset weakness.
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PMID:Two patients with co-morbid myasthenia gravis in a Brazilian cohort of inflammatory bowel disease. 2506 84

Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed.
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PMID:Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder. 2653 Feb 6

Meningitis or meningoencephalitis is a known complication of scrub typhus. Focal neurological deficits are rarely reported including hemiparesis, quadriparesis and isolated cranial nerve palsies. Here we are reporting a 24 years female who presented with fever, headache, ptosis, diplopia, facial deviation and unsteadiness of gait due to scrub typhus. Scrub typhus can present as acute or subacute meningitis complicated by multiple cranial palsies and cerebellitis. Hence it needs to be differentiated from acute bacterial meningitis and tubercular meningitis as delay in diagnosis and treatment will affect the morbidity and mortality.
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PMID:Scrub Meningitis Complicated by Multiple Cranial Nerve Palsies and Cerebellitis. 3157 66