Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 51-year-old woman with no history of any familial neurological diseases initially presented with numbness in her extremities, slowing of movements, comprehension deficit, memory disturbance, dyscalculia, muscle rigidity, hyperreflexia, Parkinsonian gait, increasing disorientation, left-right disturbance, finger agnosia, alexia, acalculia, apraxia, aspontaneity, euphoria, gait disturbance, aphasia, echolalia, and in the terminal stage, mutism, contracture of lower extremities and cachexia. She died of bronchopneumonia at the age of 55. The brain showed widespread cerebral lesions, consisting of nerve cell loss and neurofibrillary tangles in the frontal, parietal and occipital cortex, demyelination and gliosis in the frontal, parietal and occipital subcortical white matter in addition to the typical pathological findings of progressive supranuclear palsy (PSP): severe neuronal loss with gliosis and neurofibrillary tangles (NFTs) in the subthalamic nucleus, globus pallidus and substantia nigra. In conclusion, we present a case of PSP with unusual clinical features (extrapyramidal signs, frontal and parietal lobe syndromes without ophthalmoplegia) and neuropathologically widespread cerebral lesions in addition to the typical pathological findings of PSP. The differential diagnosis of PSP and Alzheimer's disease and other degenerative disorders is discussed.
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PMID:Progressive supranuclear palsy with widespread cerebral lesions. 147 14

Operative findings of degenerative changes in pituitary adenomas are not uncommon; however, clinical apoplexy is rare. We report the case of a 43-year-old man who presents a sudden right hemiplegia with aphasia and right ophthalmoplegia, in relation with an ischemic pituitary apoplexy and cerebral vasospasm. A few cases of arterial obstruction or vasospasm associated with pituitary apoplexy have been reported in the literature. Cerebral arterial spasm has also been observed after pituitary surgery. Inclusion of blood or necrotic material in the subarachnoid space seems not to be the only mechanism of vasospasm. The role of hypothalamic dysfunction is considered.
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PMID:[Ischemic pituitary apoplexy and cerebrovascular accident]. 666 2

We report an unusual autopsy case of corticobasal degeneration. The patient was male who was 67 years old at the time of his death. He developed clumsiness of his right hand at age 65. Neurological examination at age 66 revealed supranuclear ophthalmoplegia of upward gaze and parkinsonism. Progressive supranuclear palsy was suspected. The patient's clinical course was rapidly progressive. Dementia developed nine months after the onset of the disease, and the patient manifested apallic syndrome at 21 months and died of pneumonia at about 25 months. At autopsy the brain weighed 1370g. Macroscopic examination revealed prominent atrophy of the anterior and parietal lobes, particularly of the pars opercularis in the left inferior frontal gyrus, and there was marked depigmentation of the substantia nigra. Histological examination showed neuronal loss, glial proliferation, spongy state, and ballooned neurons in the frontal and parietal lobes. Neuronal loss with glial proliferation was conspicuous in the striatum, pallidum, thalamus, and substantia nigra. There was slight neuronal loss in the dentate nucleus and locus ceruleus. Staining by Gallyas-Braak method revealed massive appearance of argyrophilic threads. This case is important in terms of the clinical differentiation from progressive supranuclear palsy, and is also interesting in regard to the pathological correlation with slowly progressive aphasia.
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PMID:[An unusual autopsy case of corticobasal degeneration--with special reference to clinicopathological differentiation from progressive supranuclear palsy and slowly progressive aphasia]. 870 59

This is the first description of slowly progressive Niemann-Pick disease type C (NPC) without the typical lysosomal storage in bone marrow and viscera in two descendants of a group of 17th century French-Canadians. The index patient was a married 43-year-old woman with onset of dementia in her thirties, later followed by the development of ataxia and athetoid movements. Her autopsy disclosed frontal lobe atrophy, neurolysosomal storage with oligolamellar inclusion and tau-positive neurofibrillary tangles. Of the 119 family members screened, only a married 42-year-old sister displayed symptoms of a dementia. Both women displayed vertical supranuclear ophthalmoplegia; expressive aphasia; concrete, stimulus-bound, perseverative behavior; and impaired conceptualization and planning. Cultured fibroblasts showed decreased cholesterol esterification and positive filipin staining, but no mutation was detected in coding or promoter regions of the NPC1 gene using conformation sensitive gel electrophoresis and sequencing. Sequencing showed a homozygous gene mutation that is predicted to result in an amino acid substitution, V39M, in the cholesterol binding protein HE1 (NPC2). Adult-onset NPC2 with lysosomal storage virtually restricted to neurons represents a novel phenotypic and genotypic variant with diffuse cognitive impairment and focal frontal involvement described for the first time.
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PMID:Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. 1244 27

A 55-years-old man with a history of alcoholism, hypertension and obesity was diagnosed of epidermoid carcinoma of the middle third portion of the esophagus. He was treated with two cycles of cytostatics with cisplatin and 5-fluorouracil. Due to his poor general health an inability to swallow solids and liquids, he received parenteral nutrition for 20 days using a commercial formula lacking in vitamins and minerals. During distal esophagectomy we observed a tendency to hypotension and severe metabolic acidosis that was unexplained by the hemodynamic profile and that persisted throughout the first 24 hours after surgery. Once these complications were corrected, he was weaned from mechanical ventilation and the following neurological signs were observed: temporal and spacial disorientation, aphasia, ophthalmoplegia with divergent strabismus and later conduction aphasia, amnesia and confabulation. Circulation was hyperdynamic, requiring inotropics and vasoconstrictors. Korsakoff syndrome secondary to Wernicke's encephalopathy was diagnosed, and the response to thiamine treatment was favorable. Beriberi can be found in hospitalized patients and the anesthesiologist may be involved in their perioperative care. Symptoms resolve easily with vitamin B1 treatment, which is ideally provided along with other hydrosoluble vitamins. Treatment should be prompt because delay leads to greater morbiomortality.
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PMID:[Beriberi after esophagectomy]. 1267 75

Orbital cellulitis is rare. However the high risk of severe ocular and neurological complications make early diagnosis and adequate therapy essential. The purpose of this retrospective study is to describe 33 cases observed in the pediatric infectious disease department of the Casablanca Children's Hospital in Morocco from 1994 to 2000. Orbital cellulitis was preseptal in 24 patients and retroseptal in 9. Infection occurred in relation with sinusitis in 10 cases, polydermitis in 8, wound infection in 6, ocular infection in 2, and dental abscess in 2. Ages ranged from 40 days to 15 years with a mean age of 5 years. Infants accounted for 25% of cases and always presented preseptal cellulitis. Fever and local edema were noted in all patients. Exophthalmia occurred in six patients and seizures in 2. The 9 cases of retroseptal cellulitis were complicated by empyema in 2 cases, meningitis in 1 case and thrombophlebitis of cavernous sinus with cerebromalacia in 1 case. Bacteriological testing identified micro-organisms in 10 cases, i.e., Staphylococcus aureus in 6 cases, Streptococcus B in 1, Streptococcus pyogenes in 1, Enterobacter Cloacae in land Acinitobacter jejuni in 1 case. Therapy was based on broad-spectrum antibiotics in association with surgery in the patient presenting in intracranial abscess. Ophthalmoplegia-like sequels including blindness, aphasia, and motor deficit occurred in 2 patients. Orbital cellulitis in children are usually preseptal and have a favorable prognosis. However prompt and adequate antibiotherapy is essential due to the risk of retroseptal involvement with inflammatory palpberal edema and possible cerebral extension.
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PMID:[Orbital cellulitis in children: a retrospective study of 33]. 1561 87

The objective of this study is to better define the pathological characteristics of pathologically proven progressive supranuclear palsy (PSP) presenting with the corticobasal syndrome (CBS). PSP is characterized by early falls, vertical supranuclear ophthalmoplegia, and axial rigidity, whereas asymmetric limb features, including rigidity, bradykinesia, apraxia, alien limb phenomena, and cortical sensory loss are characteristic of CBS. We investigated clinicopathological characteristics of 5 cases of PSP that presented with CBS (CBS-PSP). Comprehensive pathological analysis was undertaken to determine the presence of concomitant pathological processes as well as quantitative tau burden in cortical regions of CBS-PSP, compared with 8 typical PSP cases (Typ-PSP). The clinical features in the CBS-PSP cases included asymmetrical features, apraxia, alien limb phenomena, and progressive aphasia. All cases had Parkinsonism, and vertical supranuclear ophthalmoplegia was noted in all but 1 case of CBS-PSP. Secondary neuropathological diagnoses included argyrophilic grain disease (AGD) in 1 of the 8 cases of Typ-PSP, whereas Alzheimer's disease (AD), Lewy body disease, AGD, and vascular disease was found in 3 cases of CBS-PSP. Image analysis of cortical tau burden performed in 8 Typ-PSP and 3 CBS-PSP cases revealed a significant increased tau burden in mid-frontal and inferior-parietal cortices in the CBS-PSP cases. This study demonstrates that when PSP presents as CBS, it is most likely due to either a concurrent cortical pathology from a secondary process such as AD or from the primary pathology of PSP extending into cortical areas that are primarily and commonly affected in CBD.
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PMID:Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome. 1583 57

The aim of this study was to describe the clinical characteristics of atypical lacunar syndrome (ALS) based on data collected from a prospective acute stroke registry. In total, 2500 acute stroke patients were included in a hospital based prospective stroke registry over a 12 year period, of whom 39 were identified as having ALS and radiologically proven (by computed tomography or magnetic resonance imaging) lacunes. ALS accounted for 1.8% of all acute stroke patients, 2.1% of acute ischaemic stroke, and 6.8% of lacunar syndromes. ALS included dysarthria facial paresis (n = 12) or isolate dysarthria (n = 9), isolated hemiataxia (n = 4), pure motor hemiparesis with transient internuclear ophthalmoplegia (n = 4), pure motor hemiparesis with transient subcortical aphasia (n = 3), unilateral (n = 2) or bilateral (n = 3) paramedian thalamic infarct syndrome, and hemichorea hemiballismus (n = 2). Atypical lacunar syndromes were due to small vessel disease in 96% of patients. Atherothrombotic infarction occurred in one patient and cardioembolic infarct in another, both presenting pure dysarthria. Outcome was good (in hospital mortality 0%, symptom free at discharge 28.2%). After multivariate analysis, the variables of speech disturbances, nausea/vomiting, ischaemic heart disease, and sensory symptoms were found to be significantly associated with ALS. In conclusion, atypical lacunar syndrome is an infrequent stroke subtype (one of each 14 lacunar strokes). ALS occurred in 6.8% of lacunar strokes. Isolated dysarthria or dysarthria facial paresis were the most frequent presenting forms. The prognosis of this infrequent non-classic lacunar syndrome is good.
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PMID:Clinical study of 39 patients with atypical lacunar syndrome. 1648 49

A loss of speech can be related to disorders of the motor units (paresis), language deficits (aphasia), or speech programming deficits (apraxia of speech). Although apraxia of speech has been reported to be associated with degenerative diseases, we observed a patient with a unique constellation of signs that included apraxia of speech, oculo-orofacial apraxia and a supranuclear ophthalmoplegia in the absence of extrapyramidal (Parkinsonian) signs. Post-mortem examination revealed a loss of neurons in the frontal and temporal regions, but there was also a marked loss of neurons and astrogliosis in the caudate, claustrum, globus pallidus, substantia nigra, and loss of axons in the anterior cerebral peduncles. This patient's clinical presentation and the pathological correlates suggest that he might have suffered with a distinct disorder we call progressive oculo-orofacial-speech apraxia or POOSA.
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PMID:Progressive oculo-orofacial-speech apraxia (POOSA). 1700 May 91

A 75-year-old woman developed trigeminal varicella-zoster virus infection complicated by ophthalmoplegia, and visual loss followed by recurrent cerebral infarctions involving small and large intracranial arteries. Medical therapy improved her ophthalmoplegia, but she developed a right hemiparesis and aphasia.
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PMID:Multiple brain infarcts after orbital inflammation. 1958 37


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