Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 38-year-old man developed pain and peripheral-type weakness on the right side of his face and was discovered to have decreased hearing bilaterally, as well as optic nerve swelling on the right. The pain and optic nerve swelling subsided over a period of six weeks, but hearing loss and facial weakness persisted. Thirty months later, he developed dysphagia, ataxia, dysarthria, nystagmus, and progressive spastic quadriparesis. He died approximately four years after the onset of the illness. Although no evidence of disease was found other than in the central nervous system during life, two nodules in the right lower lung were found on autopsy. The examination of these nodules, as well as the brain stem, showed an angiocentric and angionecrotic process with lymphoreticular and plasmacytoid invasion.
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PMID:Lymphomatoid granulomatosis clinically confined to the CNS. A case report. 58 1

A patient with eosinophilia-myalgia syndrome developed progressive central nervosa system involvement that did not improve despite discontinuation of L-tryptophan therapy. Neurologic impairment was manifested initially by spastic monoparesis, which was improved by treatment with methyl-prednisolone and hydroxyurea. Recurrence of weakness was accompanied by gait ataxia, dysphagia, and complaints of a gradual decline in memory and concentration. Neuropsychological testing identified a broad pattern of cognitive deficits suggestive of a subcortical dementia, and magnetic resonance imaging demonstrated multiple high-signal lesions in the white matter. Cognitive deficits appear to be underrecognized in patients with the eosinophilia-myalgia syndrome. The response of our patient's initial symptoms to corticosteroid therapy suggests a possible role for autoimmune mechanisms in the pathogenesis of central nervous system involvement in the eosinophilia-myalgia syndrome. Neuropsychological evaluation should be performed in patients with cognitive complaints to delineate the full spectrum of central nervous system impairment associated with the eosinophilia-myalgia syndrome.
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PMID:Central nervous system involvement in the eosinophilia-myalgia syndrome. 141 16

We describe a 58-year-old patient with a rare predominantly venous vascular malformation of the medulla oblongata, which caused a progressive bulbar dysfunction consisting of hiccoughs, dysphagia, hoarseness, dysarthria, gait ataxia and dysuria over a period of 11 months. On autopsy, a large dilated vein with focal marked intimal fibroelastic thickening was present on the ventral surface of the medulla. Microscopically, moderate proliferation of capillaries and veins was observed which was confined primarily to the medulla. The veins displayed abnormal dilatation and tortuosity; prominent thickening of vessel walls was also present in the veins and capillaries. The venous abnormalities were prominent in the parenchyma of the medulla, but much less apparent in its subarachnoid space. Multifocal neuronal loss and gliosis were observed, most prominently in the inferior olives, hypoglossal, dorsal vagal and ambiguus nuclei. The histopathologic findings suggested that abnormal venous drainage within the parenchyma of the medulla was the most critical factor for the pathogenesis of this patient's neurologic symptomatology.
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PMID:Progressive bulbar dysfunction caused by a predominantly venous vascular malformation of the medulla oblongata. 161 26

We have described the important clinical features and aspects of the Chiari-I malformations, with particular emphasis on Chiari-I malformation. Previously thought to be a rare finding with only minor significance, Chiari-I malformation is an important cause of a variety of symptoms, and will be diagnosed even more frequently as the use of MRI increases. The clinician must consider Chiari-I malformation in any patient with unexplained sensorineural hearing loss, headache, vertigo, ataxia, dysequilibrium, dysphagia or other cranial nerve symptom, especially if accompanied by more classic symptoms of this disorder, such as cervical pain or weakness.
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PMID:The Chiari-I malformation. 187 53

This report describes a rare complication after the resection of a tumor of the posterior fossa, the "one-and-a-half" syndrome. The one-and-a-half syndrome is a disturbance of horizontal eye movements in which patients have lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other direction. The patient was a 54-year-old woman who developed headaches, diplopia, and blurred vision over 6 months. Computed tomographic scans and magnetic resonance imaging demonstrated an enhancing, mixed density, midline mass of the cerebellum. After a resection of the mass, an anaplastic astrocytoma, the patient complained of more severe diplopia and facial weakness. An examination disclosed a left one-and-a-half syndrome, left peripheral facial paralysis, dysarthria, dysphagia, mild left hemiparesis, dysmetria of the left upper limb, and truncal ataxia. The brain stem showed no abnormalities on postoperative computed tomographic scans. After 4 months of follow-up, the one-and-a-half syndrome had not improved, even though other signs had improved or resolved. This syndrome is caused by damage to structures within the pontine tegmentum: the medial longitudinal fasciculus, the ipsilateral paramedian pontine reticular formation, or the ipsilateral abducens nucleus. Multiple sclerosis and brain stem infarction are the most common causes of the one-and-a-half syndrome. Less frequently, it is caused by primary and metastatic tumors of the brain stem and cerebellum. Rarely, the one-and-a-half syndrome can develop postoperatively after the removal of tumors of the posterior fossa. The mechanism of pontine tegmental injury remains unknown.
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PMID:"One-and-a-half" syndrome after a resection of a midline cerebellar astrocytoma: case report and discussion of the literature. 196 11

Idiopathic hypoparathyroidism was diagnosed in five young to middle-aged cats of mixed breeding. Three of the cats were male and two were female. Historic signs included lethargy (n = 5), anorexia (n = 5), muscle tremors (n = 4), weakness (n = 4), generalized seizures (n = 3), ataxia (n = 3), mental dullness or disorientation (n = 3), panting (n = 2), pruritus (n = 1), ptyalism (n = 1) and dysphagia (n = 1). Weakness (n = 4), dehydration (n = 2), cataracts (n = 2), hypothermia (n = 1), and bradycardia (n = 1) were found on physical examination. Results of electrocardiography revealed a prolonged Q-T interval in two cats. Results of initial laboratory tests revealed profound hypocalcemia and severe hyperphosphatemia with normal renal function. The diagnosis of hypoparathyroidism was made on the basis of the history, clinical signs, and results serum biochemical testing (i.e., severe hypocalcemia and hyperphosphatemia); in two cats, the diagnosis was also confirmed by histologic examination of parathyroid glands. Initial treatment included intravenous administration of 10% calcium gluconate and oral administration of large loading doses of calcium and vitamin D (dihydrotachysterol). Successful long-term management with dihydrotachysterol and calcium was achieved in all cats. The final dosage of dihydrotachysterol required to maintain normocalcemia in the five cats ranged from 0.004 to 0.04 mg/kg/day (mean = 0.015 mg/kg/day). Long-term calcium supplementation was given to three of the cats in dosages ranging from 29 to 53 mg/kg/day (mean = 42 mg/kg/day) of elemental calcium. One cat died after 28 months of therapy from widely metastatic hemangiosarcoma; the other three cats are still alive and well after 5 to 37 months of treatment.
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PMID:Idiopathic hypoparathyroidism in five cats. 202 14

Optimal techniques for the preoperative assessment and intraoperative management of the petrous carotid artery remain undefined. While purposeful "avoidance" of this structure may result in partial tumor removal, limited exposure of the petrous carotid artery may lead to inadvertent injury with life-threatening neurovascular sequelae. Twenty-five cases are reported in which surgical manipulation of the petrous carotid artery was necessary to accomplish total tumor removal or gain operative exposure to the skull base. A standard diagnostic radiographic assessment consisted of high-resolution computed tomography, magnetic resonance imaging, and a 4-vessel angiography. Preoperative balloon occlusion of the involved internal carotid artery was performed in four patients. Surgical approaches used in this series were broadly classified as: infratemporal-anterolateral (14), pterional-infratemporal (6), or pterional-anterolateral (5). Intraoperative management of the carotid artery consisted of total decompression in 19 cases, decompression with mobilization in four patients, and resection in two instances. Major neurovascular complications included one stroke and death caused by arterial occlusion, one stroke and death caused by arterial spasm, one stroke caused by brain edema, and one death related to a postoperative carotid hemorrhage. Other nonvascular complications included brain swelling, cranial nerve palsies, dysphagia, ataxia, cerebrospinal fluid fistulae, flap necrosis with wound infection, and pneumocephalus. Invasive and noninvasive methods are outlined for the preoperative assessment of the petrous carotid in cases of advanced skull base disease and intraoperative management options are detailed.
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PMID:The perioperative management of the petrous carotid artery in contemporary surgery of the skull base. 211 30

A 49-year-old man complained of difficulty in writing due to choreic involuntary movement in the right hand, which spread gradually to his left hand, face, lower extremities and trunk during next nine years. He also showed difficulties in speech and swallowing. His family noticed his memory disturbance and change of his character. Ten years later, mental deterioration, dysarthria and dysphagia were manifested. He showed facial grimacing and dancing gait. Deep tendon reflexes were exaggerated with no pathological reflexes. Muscle tone was rigid at his ankles. He showed no ataxia nor sensory impairment. At about 61 years old, choreic movement was decreased and rigidity spread in all extremities with joints' constructure. During next one or two years, choreic movement diminished and was restricted to his face. The extremities became more rigid and voluntary movement was severely impaired. He became mutistic with severe mental deterioration. He died at the age of 65. None of his family suffered from the same disease. Routine blood examination was normal, and there were no acanthocytes. Brain CT showed marked dilatation of lateral and third ventricles, and mild cerebral cortical atrophy. The head of caudate nucleus was also atrophic. The total protein level in the CSF was elevated to 79-121 mg/dl, and IgG% was 13.7-26.6 for last six years. Anti-CNS antibodies in the serum reacted with brain proteins of 156 kDa and 82 kDa. Pathological examination showed severe atrophy of the caudate nucleus, putamen, globus pallidus, cerebral cortex and cerebral white matter.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsied case of manifesting chorea, serum antibody to brain proteins, neuronal degeneration in striatum and grumose degeneration in dentate nucleus]. 214 2

we report a patient with Wallenberg's syndrome caused by glioma of the lateral medulla oblongata, and review the literature for Wallenberg's syndrome associated with neoplastic disease. A 46-year-old man was admitted because of progressive dysphagia and vertigo. Neurological examination revealed atypical symptoms and signs of Wallenberg's syndrome on the right side, hypalgesia on the second and third divisions of the left trigeminal nerve, paresis of the right palate and uvula, and ataxia of the right extremities. Although CT showed no abnormality in the posterior fossa, MRI demonstrated a mass with abnormal signal intensities in the right dorsolateral portion of the medulla. Biopsy specimens showed astrocytoma (grade III). Based on the present case and a review of 10 previously reported cases of Wallenberg's syndrome caused by neoplastic disease, the clinical features of this syndrome are characterized by gradual development and steady progression of symptoms, non-classical or atypical symptomatology, numerous additional symptoms and signs depending on the site and size of tumors, and poor prognosis.
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PMID:[Wallenberg's syndrome caused by a brain tumor--a case report and literature review]. 216 89

Hepatolenticular degeneration (Wilson's disease) is a hereditary disease in which metabolic disorder of copper leads to its accumulation in the liver, brain, cornea and kidneys with consequent pathologic changes in those organs. Hereditary mechanism of the disease is autosomal recessive with prevalence of 30-100 per 1,000,000 inhabitants. Etiology of this disease is not yet explained. There are two hypotheses. The first one is that it is the disorder of ceruloplasmine metabolism caused by insufficient synthesis of normal ceruloplasmine, or synthesis of functionally abnormal ceruloplasmine. The second one is: the block of copper biliar excretion which is the consequence of the liver lysosomes functional defect. Pathogenetic mechanism of disease is firstly long-term accumulation of copper in the liver, and later, when the liver depo is full, its releasing in circulation and accumulation in the brain, cornea, kidneys and bones, which causes adequate pathologic changes. Toxic activity of copper is the consequence of its activity on enzymes, particularly on those with -SH group. There are two basic clinical forms of the disease: liver disease or neurologic disease. Before puberty the liver damage is more frequent, while in adolescents and young adults neurologic form of the disease is usual. The liver disease is nonspecific and characterized by symptoms of cirrhosis and chronic aggressive hepatitis. The only specificity is hemolytic anemia which, in combination with previous symptoms, is important for diagnosis of the disease. Neurologic symptoms are the most frequent consequence of pathologic changes in the basal ganglia. In our patients the most frequent symptoms were tremor (63%); dysarthria, choreoathetosis and rigor (38%); ataxia and mental disorders (31%); dysphagia and dystonia (12%), diplopia, hypersalivation, nystagmus and Babinski's sign (6%). Among pathologic changes in other tissues and organs the most important is the finding of Kayser-Fleischer ring in the cornea as a result of copper accumulation. Its importance for precise diagnosis is great. The diagnosis of the disease is based on anamnesis, clinical examination, specific and nonspecific laboratory tests. The therapy of choice is penicillamine. If we use it early, the result will be good remission in the majority of patients. Late diagnosis or delay in treatment cause death which is the result of bleeding from esophageal varices or basal ganglia disease. Immunologic damages caused by penicillamine demand interruption of therapy and substitution by three-ethyl-tetra-amine (TETA). We also use zinc salts and tetratiomolibdate in therapy of this disease. Pathogenesis, clinical picture and therapy of the disease are based on our own results.
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PMID:[Hepatolenticular degeneration]. 226 49


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