Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.16.3.1 (ceruloplasmin)
 5,074 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recent studies have revealed that encephalitis lethargica (EL) may not be related to influenza virus infection but more likely to be a post-infectious autoimmune disease. The diagnostic clinical criteria for EL like illness include subacute hypersomnolence and ophthalmoparesis followed by Parkinsonism, oculogyric crisis, neuropsychiatric disorders and central respiratory abnormality. Recently, Magnetic Resonance Imaging (MRI), which depicts hypersignal intensity on T2 weighted, and FLAIR images at midbrain, tegmentum, and basal ganglia, have been very helpful diagnostic tests in EL like illness. Nevertheless, EL like illness has never been reported in Thailand. A 17 year-old man presented with hypersomnolence one week before admission. Physical examination revealed drowsiness and ophthalmoparesis. MRI showed bilateral hypersignal intensity lesions on T2 weighted and FLAIR images at midbrain, basal ganglia and temporal lobes. CSF studies showed normal profiles. CSF-PCR for herpes simplex virus, varicella zoster virus, cytomegalovirus, Epstein-Barr virus, Pan-Enterovirus and Westnile virus were negative. CSF Dengue and Japanese encephalitis virus hemagglutination test were negative. He was treated with intravenous dexamethasone and immunoglobulin. Somnolence and ophthalmoparesis were improved. Two months later, he developed schizophreniform features and Parkinsonism. MRI revealed improvement of midbrain and basal ganglia lesions. CSF studies showed normal CSF profiles while oligoclonal bands were positive. Autoimmune profiles and serological tests for post-streptococcal infection as well as syphilis were negative. Thyroid function tests and serum ceruloplasmin were within normal limits. Levo-Dopa, clonazepam and sodium valproate had been prescribed and the clinical syndrome was gradually improved.
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PMID:Encephalitis lethargica like illness: case report and literature review. 1710 Mar 95

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder typically characterized by progressive dementia associated with myoclonus, cerebellar and other focal neurological signs. Electroencephalogram, brain MRI and cerebrospinal fluid (CSF) analyses are helpful diagnostic tools, but diagnosis in patients with atypical presenting neurological signs is often difficult to make. A 55-year-old woman developed disorientation, drowsiness and focal motor signs after a traumatic brain injury due to an accidental fall. In two weeks, her symptoms worsened in spite of a brain MRI showed an improvement of traumatic lesions, but the presence of bilateral hyperintensity in the basal nuclei was suggestive of a metabolic or prion encephalopathy. The high 24-h urinary copper level and reduction of ceruloplasmin initially supported the diagnosis of Wilson's disease, but the absence of Kayser-Fleischer rings, and the positivity of 14-3-3 protein test and elevated tau concentrations in the CSF oriented toward a diagnosis of CJD. She died 5 months after the onset, and the postmortem examination of the brain revealed immunochemical features of CJD. This case exemplifies the difficulty of a timely diagnosis when rapid progressive dementia is masked by concomitant factors (i.e., head trauma) and neurological signs are associated with unclear laboratory findings.
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PMID:Creutzfeldt-Jakob disease masked by head trauma and features of Wilson's disease. 2548 69