Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of Creutzfeldt-Jakob disease in a 38-year-old man, transmitted by a cadaveric dural graft. In August 1985, he underwent cranial nerve decompression for hemifacial spasm and received a cadaveric dural graft for dural closure. He had been well until he began to complain of blurred vision and headache in May, 1990. He developed dementia, myoclonus and urinary incontinence over the subsequent 3 months. He was admitted to our hospital in August, 1990. On admission, he was somnolent and showed gait disturbance, myoclonus in extremities and elevated deep tendon reflexes symmetrically. The results of analysis of blood, urinary and cerebrospinal fluid were normal. The initial computed tomography (CT) and magnetic resonance imaging detected no abnormality. Electroencephalography showed typical periodic synchronous discharge (PSD). There was progressive worsening of his neurological symptoms, and this developed into mutism in September, 1990. CT, 11 months after clinical onset, showed marked enlargement of the ventricles and the sulci. In view of his rapid worsening clinical course, PSD findings on electroencephalography, and delayed progressive changes of CT findings, the diagnosis of CJD disease was made. The cadaveric dural graft was suspected as the cause of the patient's condition. Since Thadani et al reported the first case of CJD transmitted by cadaveric dural graft in 1988, 3 other cases have been reported. This is most likely the 5th reported case of Creutzfeldt-Jakob disease transmitted by cadaveric dural graft.
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PMID:[Creutzfeldt-Jakob disease transmitted by cadaveric dural graft: a case report]. 845 5

A case of Creutzfeldt-Jakob disease (CJD) is reported in a 48-year-old woman who had received a cadaveric dural graft after a clipping procedure of a cerebral artery aneurysm in September 1985. In November 1994, she noticed unsteady gait and blurred vision at first. She successively developed ataxic gait, dementia and myoclonus, and became mute. Serial CT scans revealed no abnormal findings, and serial EEGs showed diffuse slow activity without periodic discharge. The patient died in March 1996, 17 months after the initial symptoms. A brain autopsy demonstrated extensive spongiform degeneration in the cerebral neocortex, thalamus, striatum, and cerebellum especially in the granular layer, with associated astrocytosis and marked neuronal loss. Immunohistochemically, PrP plaques, so called kuru-type plaques, were extensively distributed throughout the cerebrum and cerebellum. Moreover, some of these plaques resembled "florid" plaques, which were surrounded by a zone of spongiform change. The PrP gene analysis of her blood and brain tissue revealed no mutations with homozygosity, Met/Met, at codon 129. The unusual features of this case, that is the absence of PSD on EEG and the widespread presence of kuru-type plaques including "florid" plaques, may be similar to the features of "new variant" CJD.
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PMID:[Creutzfeldt-Jakob disease with a widespread presence of kuru-type plaques after cadaveric dural graft replacement. An autopsy case]. 943 Sep 98

The Creutzfeldt-Jakob disease (CJD) is rare spongiform encephalopathy. Its main symptoms are rapidly progressing dementia, myoclonic jerks, visual disturbances, ataxia, and pyramidal and extrapyramidal signs. A case of sporadic form of the CJD is reported, with blurred vision as one of the first symptoms. This symptom occurred shortly after vaccination against influenza, and was accompanied by other signs suggesting postvaccinal encephalitis. However, at a later stage of the disease typical changes were found in EEG recording and in magnetic resonance imaging (MRI). The presence of the 14-3-3 protein was detected in the patient's cerebrospinal fluid. The diagnosis of sporadic Creutzfeldt-Jakob disease was verified neuropathologically.
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PMID:[Diagnostic difficulties in Creutzfeldt-Jakob disease--case report]. 1517 42

A 43-year-old woman presented with 1 month of progressive lower limb burning sensation, blurred vision, and gait disturbance. Her mother died of Creutzfeldt-Jakob disease (CJD). Neurologic examination revealed only cerebellar ataxia. EEG revealed periodic generalized discharges. MRI (figure 1) showed FLAIR hyperintensity in caudate and lenticular nuclei. Molecular analysis confirmed genetic CJD (PRNP E200K mutation). One month later, she became comatose. After 10 months, EEG showed diffuse background flattening without periodic abnormalities, and MRI (figure 2) disclosed diffuse pseudohypertrophy of cerebral cortex. MRI in this patient with end-stage CJD allowed us to reveal in vivo the macroscopic spongiform changes usually observed at autopsy.
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PMID:Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease. 2329 37

Here, we report a Chinese case of Creutzfeldt-Jakob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (Val) to isoleucine (I) at codon 203 (V203I). The 80-y-old male presented with sudden memory loss, rapid loss of vocabulary, inattention and slow responses, accompanied by dizziness, blurred vision and ataxia. Two weeks after admission, he exhibited tremor, myoclonus and bilateral Babinski signs. At the end of the clinical course, he developed severe akinetic mutism. The cerebrospinal fluid (CSF) was positive for 14-3-3 protein. Increased bilateral signal intensity in the frontal and parietal lobes was seen on diffusion-weighted imaging (DWI); periodic activity was recorded on an electroencephalogram (EEG). There was no family history of similar symptoms. The total clinical course was approximately two months.
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PMID:Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. 2376 40

We report our findings in 3 cases of Creutzfeldt-Jakob disease (CJD) with visual disturbances as the initial manifestations. These cases were found to have the Heidenhain variant of CJD. Two cases initially presented with progressively blurred vision and homonymous hemianopia. The other case initially presented with blurred vision and a decrease in the central sensitivity in both eyes. These 3 cases developed neurological symptoms about 4 weeks after the onset of visual symptoms. All were diagnosed with the Heidenhain variant of CJD based on the clinical course and confirmed by positive assays of the cerebrospinal fluid for the 14-3-3 protein and tau protein. In addition, the diagnosis was confirmed by the findings of diffusion-weighted magnetic resonance imaging and electroencephalography. Patients can present with isolated visual symptoms which precede a decline in cognition by weeks due to the predominantly occipital lobe disease. The 3 patients were referred to the neurology department within 1 month of onset. The early diagnosis was necessary to avoid spread of the infection. In cases of suspected CJD, it is important to consult a neurologist quickly to make a definitive diagnosis of CJD. Ophthalmologists should be aware that visual impairments may be the first indication of CJD.
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PMID:Three Cases of Creutzfeldt-Jakob Disease with Visual Disturbances as Initial Manifestation. 3176 67