Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X-linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2-3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X-linked spinocerebellar ataxia and X-linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X-linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.
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PMID:Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. 281 91

We are reporting a rare case of clivus chordoma with fatal hemorrhage in the posterior fossa. A 38-year-old woman afflicted with sudden onset of severe headache and vomiting. On neurological examination, she was mildly lethargic. She had slight dysarthria and nystagmus, but no cranial nerve abnormalities. Craniogram revealed erosive changes in the right petrous bone. CT scan showed a massive intracerebellar hemorrhage and isodense mass in the sphenoid sinus, which were not enhanced by contrast medium. She became comatose and died 3 days later. No operation was performed. Autopsy revealed massive hemorrhage in the posterior fossa and yellowish, gelatinous tumor extending from the right clivus to the sphenoid sinus. Histological examination showed a chordoma. This case demonstrates that the hemorrhage associated with brain tumor, especially in posterior fossa, produces a significant sudden elevation of intracranial pressure and leads clinically to a rapid loss of consciousness and death soon after the onset.
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PMID:[A case of clivus chordoma showing hemorrhage in the posterior fossa]. 306 8

Four different antineuronal autoantibodies have been identified in 23 of 47 patients with paraneoplastic cerebellar degeneration (PCD). The most common, an antibody against 34- to 38-kDa and 62- to 64-kDa protein antigens in the cytoplasm of Purkinje cells, was found in 18 patients. It is a highly specific marker for a severe stereotypical subacute pancerebellar syndrome of truncal and appendicular ataxia, dysarthria, and nystagmus in women with cancer (usually ovarian or breast carcinoma). Different anti-Purkinje cell antibodies (APCA) were found in 2 other patients with PCD. With two possible exceptions, an APCA was not found in patients with other neurological diseases, with cancer not associated with neurological symptoms, or in normal subjects. Antibodies reactive with neuronal nucleoproteins were identified in 3 other patients with PCD: an antibody that recognized 35- to 40-kDa neuronal antigens was found in 2 women with small-cell lung carcinoma, while an antibody in a woman with breast carcinoma identified 53- to 61-kDa and 79- to 84-kDa antigens. Detection of an antineuronal antibody in a patient without known cancer should prompt a careful search for a tumor at a site appropriate to the antibody type.
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PMID:Paraneoplastic cerebellar degeneration: clinical-immunological correlations. 323 56

Two patients, a brother and sister, presenting with reduced visual acuity, nystagmus, hypopigmentation of the maculae, head nodding, dysarthria and other neuromuscular incoordinations are reported. They were found to be suffering from histidinaemia by aminoacid analysis of urine.
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PMID:Ocular involvement in histidinaemia. 343 57

Bromisoval has been used as a hypnotic for the past several decades, and its abuse was known to cause various neurological as well as psychiatric symptoms. Three patients showed a variety of symptoms which could not be explained neuroanatomically: nystagmus, gait disturbance and hyperreflexia of the limbs in all the cases, dysarthria, double vision, hypotonia, ataxic gait and disturbance of consciousness occasionally and auditory agnosia in one case. For the purpose of determining the diagnosis, an energy dispersive X-ray microanalysis (EDX) was used to detect bromine. Five microliters of specimens were placed on the carbon-coated mesh, and using a TN-2000 analyzer, characteristic X-ray peaks of bromine were detected in the serum, urine and cerebrospinal fluid. The sensitivity to detect bromine in the serum was 30 micrograms/ml.
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PMID:Three cases of chronic bromisoval intoxication: clinical symptoms and application of energy dispersive X-ray analysis (EDX) to detect bromine in serum, urine and cerebrospinal fluid. 362 93

The authors report one autopsy case of syringomyelia associated with Chiari malformation and basilar impression. The pathogenesis of syringomyelia in our case is discussed. This 37-year-old man complained of progressive difficulty in swallowing and walking for two years. He had noticed dysarthria for six months before admission. (Examination) Neurological examination showed dysarthria, down beat nystagmus, disturbance of IXth nerve, Xth nerve and XIth nerve, and cerebellar ataxia. Deep tendon reflexes were hyperactive in the upper and lower extremities. Babinski's sign was positive bilaterally. Neuroradiological examination demonstrated basilar impression and Chiari malformation. (Operation) Suboccipital craniectomy and laminectomy of upper cervical vertebra were performed with dural plasty. Postoperatively he acquired some improvement, but soon after he was worse. He died of respiratory disturbance. (Postmortem examination) Though the central canal was obliterated at the C4 level, the syrinx extended from the C5 to Th7 level. From the C5 to C8, the syrinx was present in the areas of central gray matter, extending into the left dorsal horn, where it communicated with subarachnoid space. Furthermore, the abnormal vessels were noticeable around the syrinx. At the Th2 level, they were also shown in central grey matter where no syrinx existed. (Conclusion) The etiology of syringomyelia in our case was not explained by Gardner's hydrodynamic theory. We suggested that intramedullary abnormal vessels played an important part for the formation of the syringomyelia.
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PMID:[An autopsy case of syringomyelia associated with Chiari malformation and basilar impression]. 367 May 38

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
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PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

Communicating syringes confined to the brain stem are extraordinarily rare. Two patients, presenting with signs and symptoms of cerebellar dysfunction, later developed evidence of brain-stem disease with dysarthria, nystagmus, deafness, and internuclear ophthalmoplegia. The condition of both patients had been diagnosed clinically as multiple sclerosis, but at autopsy they had a striking keyhole-shaped syrinx in the midbrain and upper pons, which communicated with the aqueduct and fourth ventricle without associated syringomyelia. In addition, both patients had marked atrophy and gliosis of the cerebellum, one with extension of the syrinx into cerebellar folia. The unique character of these lesions coupled with the similarity of the clinical features of the cases prompted us to name this disorder--"keyhole aqueduct syndrome."
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PMID:Keyhole aqueduct syndrome. 374 Dec 9

Linear fractures through the occipital bone are common, whereas depressed fractures in the posterior cranial fossa are rare because the occipital bone is protected by the surrounding thick muscles. The authors describe an unusual case of depressed fracture localized in the posterior cranial fossa associated with the syndrome of acute central cervical spinal cord injury. A 50-year-old female struck her face against the table and fell backward, while drunk, resulting in the bruise over the occipital region. Three days after injury she was transferred to our hospital because of progressive disturbance of consciousness, brain stem dysfunction and tetraplegia. Neurological examination on admission showed that she was drowsy, had tetraplegia and could not speak. However, she could obey commands only by moving her eyes and the ocular movements were normal in all directions except for horizontal nystagmus. Plain skull x-ray revealed a conspicuously depressed fracture in the posterior cranial fossa, but cervical spine x-ray showed neither fracture nor dislocation. Immediately suboccipital craniectomy was done and there were a thin subdural hematoma on the cerebellar surface, cerebellar contusion, and subarachnoid hemorrhage around the cisterna magna. Soon after operation impaired consciousness and paraplegia were improved, but recovery of both arms was delayed. Five months after injury, she still had left IX, X and XI nerve paresis, bilateral arm weakness, dysarthria, swallowing disturbance and bilateral sensory disturbance below C4 level. These findings indicated that she had sustained brain stem and cerebellar compression by the depressed fracture and also had suffered an acute central cervical spinal cord injury.
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PMID:[Unusual case of depressed fracture of the posterior cranial fossa associated with the syndrome of acute central cervical spinal cord injury]. 374 92

A 41-year-old patient with the rigidity syndrome was observed. The disease was expressed in marked rigidity of the long muscles of the back forming a picture of persistent hyperlordosis which led to a considerable disablement of the patient. Another complaint was spasms of the femoral muscles. A four-year follow-up of the patient revealed periodically recurring ataxia, nystagmus, and dysarthria. The patient benefited by relanium (diazepam) administration. On the basis of the literature data and a clinical analysis of this case the authors review clinical, differential-diagnostic, pathogenetic and etiological aspects of the rigidity syndrome.
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PMID:[The stiff man syndrome]. 381 25


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