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)

An 11-year-old girl with diffuse goiter is presented. She had no clinical evidence of thyrotoxic symptoms or signs of palpitation, excessive sweating, tachycardia or finger tremor. Both the serum T4 (24.0 micrograms/dl) and T3 (282ng/dl) were high, and thyroid 131I uptake rate (63.2%) was significantly elevated, but T3/T4 ratio was not elevated (11.8). BMR was measured three times and remained within normal limits. Her serum TSH was 1.9 microU/ml, and a TRH stimulation test resulted in a normal rise of serum TSH (13.4 microU/ml). The TSH secretion was not suppressed by medication (p.o.) of 75 micrograms of L-triiodothyronine given for 8 days. The autoantibodies of T4, T3 and TSH were negative. No sign of pituitary tumor was observed by plain X-ray film. No defect in her sight-field was found. From these clinical figures and data, Refetoff's syndrome was suspected. She was eumetabolic without any treatment, but the goiter gradually enlarged and dysphagia developed. A large dose of L-thyroxine (450 micrograms/day) was given for a period of one year and four months. She has been eumetabolic. Her goiter disappeared and the dysphagia completely subsided. After she was given large doses of L-T4, her serum TSH was reduced to 0.07 microU/ml and was slightly elevated to 0.24 microU/ml at 30 min after i.v. infusion of 500 micrograms TRH. Thyroid 123I uptake rate was suppressed to 8.3%. According to Refetoff's papers, this case was classified as being in the group with generalized resistance to thyroid hormone.
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PMID:[A case report of Refetoff's syndrome]. 259 12

Experience with liver transplantation for patients with Wilson's disease who have major neurological impairment is limited, and this report describes the results obtained in two such patients. The first was a 30-year-old man with a 14-month history of hepatic and neurological impairment. In spite of treatment with d-penicillamine, he developed increasing dysarthria, dysphagia, akinesia and rigidity of all four limbs, and required continuous nursing care. Following transplantation, liver function was almost normal from four weeks onwards, but recovery of neurological function was much slower and was not seen until two to three months after surgery. By four months he was sufficiently mobile to be discharged, and when he returned for assessment at eight months, no abnormal neurological signs were detectable. The second patient was a 27-year-old woman with worsening liver dysfunction for eight years; one year previously she had developed dysarthria, akinesia, a fine tremor and moderate rigidity of all limbs as well as marked psychological impairment. There was no improvement on treatment with d-penicillamine or trientine, but as liver function returned to normal two months after liver grafting, her neurological and psychological function began to improve so that by three months she could be discharged.
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PMID:Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation. 332 13

A three-year-old boy with a progressive history of headache, vomiting and ataxia in the course of 2 months, was admitted on August 1983, when he was lethargic. Neurological examination revealed dysphagia, scanning speech and tremor in the bilateral hand. CT scan showed a very large enhanced mass in the center of posterior fossa with central necrosis in it and the dilatation of whole ventricular system. Suboccipital craniectomy was immediately performed and the tumor that occupied the vermis and invaded into both cerebellar hemisphere was subtotally removed. Postoperative irradiation was well performed: 4140 rads to the whole brain and 3162 rads to the spinal cord. However, 5 months later, facial palsy in the left side and progressive ataxia became prominent. CT scan showed multiple enhanced masses in the left trigonum and right anterior horn of the lateral ventricles and in the left cerebellopontine angle. In spite of chemotherapy, the patient had a down-hill course, especially after the ventricular hemorrhage, and died on June 9th, 1984. Histologically, the tumor had a lobulated appearance with an aggregation of tumor cells encircled by vascular septae. The cells within lobules generally had vesicular nuclei, which were arranged in parallel row. Occasionally smaller hyperchromatic cells with scant cytoplasm were present along the vascular septae. Reticulin was present within the septa, but was not observed within the lobules. Scattered astrocytic cells and processes were identified within the lobules by the immunoperoxidase technique for GFAP. The fibrillary cytoplasmic processes within the lobules were stained by immunoperoxidase technique for neurofilament (68K).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of cerebellar neuroblastoma]. 361 40

Sixty-five cases of clinically diagnosed multiple lacunar state have been analysed. The clinical course of multiple lacunar state is usually progressive in nature, simulating degenerative diseases, in contrast with the mode of acute onset seen in the other vascular diseases. Average age at the initial visit was 63.8 year-old, and sex ratio showed marked male preponderance, being 12 for males and 1 for females. Gait disturbance and speech disturbance are the most frequent initial symptoms, followed by slow motion, emotional lability and swallowing difficulty. Neurological manifestations are dysarthria, short-stepped and apraxic gait, hyperreflexia, positive Babinski and Chaddock reflexes, minimal spasticity, dementia, positive palmo-mental reflex, emotional lability, fixed face, rigidity, bradykinesia, foot grasping, dysphagia, positive Myerson's sign and tremor, in the order described. The important point is that the rigidity is paratonic and the tremor is action or postural, not the cogwheel rigidity or resting tremor like Parkinson's disease. The appearance of pathological reflexes (Babinski and Chaddock reflexes) are quite important, especially Chaddock reflex, which can frequently become positive despite negative or equivocal Babinski reflex. Hypertension, especially longstanding in nature, is the major contributing factor in this disorder. CT scan showed the presence of one or more lacunes in 52 out of 65 cases (80.0%). The detection of lacune can be influenced by the quality of CT scan, and the high resolution CT scanner is greatly useful for that purpose. It is stressed that the detailed neurological and computed tomographic evaluations will make it possible to reach the clinical diagnosis and appropriate treatment of multiple lacunar state.
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PMID:[Clinical studies on multiple lacunar state]. 674 15

Magnesium deficiency may complicate many diseases. The causes include the following: inadequate intake during starvation or increased requirement during early childhood, pregnancy, or lactation; excessive losses of magnesium as a result of malabsorption from the gastrointestinal tract or from the kidneys during use of diuretics; and to a combination of the two, as in alcoholism. Most often the etiological factors have been operative for a month or more. Acute hypomagnesemia can occur without previous Mg deficiency after epinephrine, cold stress and stress of serious injury or extensive surgery. The clinical manifestations depend on the age of the patient and may begin insidiously or with dramatic suddenness, or there may be no overt symptoms or signs. The manifestations can be divided into the following categories: totally non-specific symptoms and signs ascribable to the primary disease; neuromuscular hyperactivity including tremor, myoclonic jerks, convulsions, Chvostek sign, Trousseau sign (rarely), spontaneous carpopedal spasm (rarely), ataxia, nystagmus and dysphagia; psychiatric disturbances from apathy and coma to some of all facets of delirium; cardiac arrhythmias including ventricular fibrillation and sudden death; hypocalcemia which is responsive only to Mg therapy; and hypokalemia which is not easily nor completely corrected without Mg therapy. The diversity of etiologies and the multiplicity of manifestations result in confusion and controversy. The documentation of normal renal function is absolutely necessary for maximum doses. The order of magnitude of dose is 1.0 meq Mg/kg on day 1, and 0.3 to 0.5 mEq/kg per day for 3 to 5 days. In emergencies such as convulsions or ventricular arrhythmias, a bolus injection of 1.0 gm (8.1 meq) of MgSO4 is indicated. Therapy of Mg deficiency in the presence of renal insufficiency requires smaller doses and frequent monitoring. Complete repletion occurs slowly.
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PMID:Magnesium deficiency. Etiology and clinical spectrum. 702 Mar 47

We report a 56-year-old woman with parkinsonism and dementia who died of respiratory failure. The patient was well until the age of 41 when she noted insidious onset of difficulty in moving around. Soon after, she noted tremor in both her hands and gait disturbance. She received stereotaxic right thalamotomy when she was 46-year-old; after thalamotomy, improvement was noted in her tremor, rigidity, and in gait. However, a few months later, she started to experience motor fluctuations with worsening of her symptoms in the afternoon. This worsening was temporarily relieved by increasing her levodopa/benserazide dose. She started to show visual hallucination and agitation when she was 54-year-old. Her symptoms had progressively become worse with marked motor fluctuations and she was admitted to our hospital when she was 56-year-old. On admission, she was alert and general physical examination was unremarkable. Neurologic examination revealed that she was disoriented to time and place; memory was markedly disturbed and calculation was poor. Hasegawa dementia scale was 7/30. Higher cerebral functions appeared intact. She showed masked face, small voice, and some dysphagia. Other cranial nerves were intact including ocular movements. She was unable to walk by herself; when supported she walked in small steps with marked disturbance in the righting reflex. Mixed rigidity and Gegenhalten was noted in her four limbs and in the neck. Tremor was absent. She showed marked akinesia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A 56-year-old woman with parkinsonism and dementia with the age of onset at 41 years]. 754 42

Two principal forms of diseases caused by Inkoo and Tahyna viruses were observed, fever (25 pts, 61%) and neuroinfection (13 pts, 31.7%). In 3 (7.3%) subjects the infection was inapparent. Ten patients presented with mixed forms of infection (virus-virus or virus-bacterial). Clinical manifestations were characterized by marked polymorphism and low specificity. The onset was acute with expressed symptoms of infection and weak catarrhal manifestations. Of the patients with the neuroinfectious form of the disease 3 presented with aseptic meningitis, 2 with meningoencephalitis, and 5 with encephalitis. Aseptic meningitis was characterized by a combination of general infectious and moderately expressed meningeal syndromes with weak inflammatory changes in the spinal fluid. Encephalitides were associated with numerous neurological symptoms which manifested on days 3-7 of the illness. These symptoms were asymmetry of nasolabial folds, hemiparesis, dysarthria, dysphagia, generalized tremor, tongue deviation. No significant differences in the clinical manifestations of Inkoo and Tahyna infections were observed.
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PMID:[Neurologic characteristics of diseases caused by Inkoo and Tahyna viruses]. 774 Jul 83

Parkinsonism is an uncommon movement disorder in childhood. Six unusual cases of acquired parkinsonism in hospitalized children are described. Clinical manifestations included an akinetic-rigid syndrome with and without tremor, the combination of parkinsonism and dystonia, and a parkinsonism-plus syndrome. Altered mental status, mutism, dysphagia, and sialorrhea were frequent associations. Etiologies included hypoxic-ischemic encephalopathy; haloperidol treatment with and without neuroleptic malignant syndrome; toxicity of cytosine arabinoside, cyclophosphamide, amphotericin B, and methotrexate; St. Louis encephalitis and other encephalitides; and a pineal tumor with hydrocephalus. Cranial magnetic resonance imaging results ranged from normal to profound cerebral and cerebellar atrophy with chemotherapeutic toxicity. The illnesses usually were severe enough to require pharmacotherapy. Incorrect diagnoses of depression or catatonia delayed treatment or aggravated the problem. Acute treatment included amantadine, levodopa/carbidopa with or without selegiline, diphenhydramine, or benztropine. The concentration of CSF homovanillic acid was normal in a neuroleptic-associated patient, but the level was low in an encephalitic patient. All patients demonstrated dramatic improvement, including two who were not treated; some had complete resolution of symptoms and none required continued antiparkinsonian drugs despite poor scores on the Unified Parkinson's Disease Rating Scale and the Modified Hoehn and Yahr Rating Scales. The causes of parkinsonism described are more common in a general pediatric hospital than the parkinsonism associated with the popularized Segawa syndrome.
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PMID:Clinical spectrum of secondary parkinsonism in childhood: a reversible disorder. 802 61

A 43-year-old male was referred by a veterinarian who evaluated his dog for a seizure and suspected a toxic lead exposure for both. He refurbished houses, removing old paint, and complained of decreased cognition, fatigue, and muscle cramps. He had a depressed affect, postural tremor, right arm weakness with partial denervation on EMG, and borderline-low sensory nerve action potential (SNAP) amplitudes. A mild anemia and elevated serum and urine lead levels supported a diagnosis of lead neuropathy. Chelation therapy increased urine lead excretion without symptomatic improvement. His brother worked part-time with him and developed similar findings, but also had difficulty chewing, dysphagia, perioral twitching, gynecomastia, and multifocal denervation of extremity and facial muscles. His lead levels were not elevated, but an androgen receptor mutation identified on the X chromosome for both brothers confirmed the diagnosis of X-linked bulbospinomuscular atrophy (Kennedy's disease).
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PMID:X-linked bulbospinomuscular atrophy (Kennedy's disease) masquerading as lead neuropathy. 817 Apr 88

Thirty-two patients with spasmodic torticollis were assessed quantitatively for posture deformity, tremor and range of neck movement, and qualitatively for pain and global subjective disability. All patients were then treated with intramuscular botulinum toxin injections into appropriate neck muscles. Fifty-three treatments were administered using dosages of toxin in the range of 50-100 U per muscle. The maximum dose administered at a single sitting was 280 U. The progress of the patients was assessed during an 18-month period. Seventy-five percent of patients showed documented improvement in both subjective and objective parameters and were considered treatment successes. Pain improved in 65%, posture in 65%, tremor in 50% and range in 46%. The side effects that occurred were transient and included fatigue, dysphagia, neck weakness, hoarseness and local pain. This study demonstrates that treatment with botulinum toxin is of significant benefit for the majority of patients with spasmodic torticollis.
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PMID:Effectiveness of botulinum toxin in the treatment of spasmodic torticollis. 846 37


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