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)

A clinical and neuropathological study of a case of xeroderma pigmentosum with severe neurological abnormalities was performed. The patient developed sensitivity to the sun, followed by freckles and malignant skin tumors. Some years after the onset of the cutaneous symptoms, a slowly progressive mental deterioration was noted. Subsequently, dysarthria, increased sensitivity and a tendency to cry and to be easily frightened developed together with ataxia and spasticity of the limbs. Late in the course of the disease the patient was severely disabled because of spastic tetraplegia. The clinical examination revealed generalized slowing in EEG, mixed sensory and motor neuropathy in EMG, thick skull, both cerebral cortical atrophy and ventricular dilatation in computed tomography and marked decrease in cerebrospinal homovanillic acid content. The neuropathological study showed marked loss of neurons in the basal nucleus of Meynert, the substantia nigra, the cerebellum, medulla and spinal cord. Diffuse loss of neurons was noted in the cerebral cortex and in the deep cerebral nuclei. In the nerve cells, a high amount of cytoplasmic lipofuscin was observed in some areas of CNS. The sciatic nerve showed marked loss of axons and heavy deposition of collagen around the remaining nerve fibers. The present neuropathological findings explain many of the clinical symptoms observed in xeroderma pigmentosum and show similarities with those observed in olivopontocerebellar atrophy, although the basic mechanism for the CNS damage is still unclear.
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PMID:Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. 370 28

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

Two young patients are described who made good recoveries from a "locked-in" syndrome presumed to be due to ventral pontine ischemia. The first patient recovered completely from quadriplegia and mutism. In the second patient the only permanent sequellae were slight dysarthria and mild spasticity. Since patients may recover nearly completely from a "locked-in" syndrome, aggressive supportive therapy seems justified during the initial weeks or months.
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PMID:Reversible "locked-in" syndromes. 404 98

Three patients, who subsequently developed the locked-in state characterised by quadriplegia and mutism with an alert sensorium, initially had mild dysarthria and uncrossed hemisensory or hemimotor deficits involving the face and ipsilateral extremities. Case one initially mimicked a left cerebral lesion with right hemisensory deficits, a mild right facial paresis and a right homonymous field deficit. Case two initially developed both left hemimotor and hemisensory deficits and later developed a paresis of right conjugate gaze. Case three presented with left hemimotor deficit, and mild paresis of conjugate gaze to the right. All three patients died. Rostral brainstem infarctions were found at necropsy in cases one and two. Case three had a radiolucent area of the brainstem demonstrated by CT Scan. Hemisensory and hemimotor deficits also have been noted to precede reported cases of pontine infarction with the locked-in state. Acute onset of uncrossed hemisensory and hemimotor deficits with dysarthria may be caused by infarction of the pons which may predispose to the locked-in state.
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PMID:Premonitory symptoms of stroke in evolution to the locked-in state. 684 29

A 68-year-old man was admitted to St Marianna University Hospital on account of loss of consciousness with left hemiplegia. During the hospital recovery course with a rehabilitation procedure, the patient's blood pressure was very unstable, fluctuating between high (210/110 mmHg) and low (110/70 mmHg) values accompanied by a fainting sensation. A second stroke of left hemiplegia took place 1 month later. Afterwards, his condition worsened to tetraplegia with dysarthria. Three months later, lung cancer with multiple metastasis including his left neck was found and he died from adynamic ileus 6 months after the onset of the present illness. Autopsy revealed nearly complete atheromatous obstruction and more than 50% stenosis, respectively, of his right common and internal/external carotid arteries. His intracranial arterial trunks and main branches were all patent with localized atherosclerosis of only moderate degree. The pathology of the brain existed predominantly in the right hemisphere in the border zone area between the anterior and middle cerebral arteries systematically with numerous disseminated foci of complete or incomplete necrosis, white matter and gray matter being involved independently. Involvement of centrum semiovale white matter is more extensive and intensive than that of gray matter. Of the gray matter, cerebral cortex as well as striatum, periventricular (the third ventricle) gray and cerebellar cortex was involved. The specific characteristic topography and distribution of the lesions together with their histopathology are described in detail with illustration. It is concluded that this case represents an outstanding example of hemodynamic cerebral circulatory insufficiency doubly caused by hemilateral carotid artery stenosis and repeated episodes of systemic hypotension.
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PMID:An autopsy case of hemilaterally dominant and systematic/extensive border zone infarction: sequela of preceding atherosclerotic obstruction of one common carotid artery followed by repeated episodes of systemic hypotension. 1183 34

A 64-year-old woman presented with sudden onset of disequilibrium and dysarthria. Two days later she became lethargic and tetraparetic. An emergency MRI disclosed multiple infarctions in the medulla oblongata and pons. An angiogram revealed severe stenosis of the rostral basilar artery. The patient underwent a rapidly progressive course with impaired consciousness and flaccid tetraplegia. MR images 7 days after the onset disclosed a symmetrical midbrain infarction that was localized mainly in the cerebral peduncles, suggesting a distal basilar artery occlusion as the cause of this pathology. Since 4 weeks after the onset the patient was in the persistent vegetative state, which was essentially unchanged during the 1-year follow-up period. Persistent vegetative state is known to be caused by diffuse supratentorial or bilateral thalamic lesions, but in our case the lesions were restricted to the infratentorial area. We speculate a mechanism to cause the persistent vegetative state by partial impairment of the connection to the thalamic ascending system or extrathalamic ascending system, which leads to the dissociation of arousal(preserved in this case) and awareness(impaired in this case) after the ventral midbrain infarction.
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PMID:[A case of the persistent vegetative state following symmetrical peduncular infarction]. 1186 54

In the present study, a rare autopsy case of primary squamous cell carcinoma of the brain is described. The patient was a 49-year-old man who showed brainstem symptoms and signs. These included oculomotor, abducens and facial palsies, dysphagia, dysarthria, and long tract signs such as quadriplegia with Babinski's signs during the 3-year and 6-month course of his illness. Neuropathologically, poorly differentiated squamous cell carcinoma was seen in the pons, medulla oblongata, part of the midbrain and spinal cord, the base of the cerebellum, the hypothalamus, the optic chiasm, and the left parahippocampal gyrus. The base of the pons and medulla oblongata were extensively destroyed by tumor cells. The relevant literature regarding primary squamous cell carcinomas of the brain was reviewed, and the characteristic features of this rare condition were discussed.
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PMID:Primary squamous cell carcinoma of the brain. A rare autopsy case. 1457 Feb 92

A 30-year-old man was hospitalized with dysarthria and weakness of his right arm and leg. Three months previously, he had noticed numbness and weakness of his right shoulder, which spread to involve his left leg but which improved after 8 months. On admission, neurological examination revealed limb kinetic apraxia and constructive apraxia of the right hand, motor aphasia, dysarthria, and spastic quadriplegia. Sensory examination revealed hyperalgesia and dysesthesia in the right arm and left leg. Deep tendon reflexes were hyperactive in all four extremities. And he had bilateral Babinski signs. Laboratory examination revealed pH 7.38, PCO2 46.1 Torr, PO2 93.4 Torr, BE 1.7, and blood lactate, 9.0 mg/dl (normal 5-20 mg/dl). Cerebrospinal fluid lactate level was 20.0 mg/dl. pyruvate 1.34 mg/dl. and protein 83 mg/dl. Blood lactate and pyruvate values were markedly elevated after aerobic exercise. T2WI brain MRI showed scattered high signal lesions in the left precentral and postcentral gyrus, right paracentral lobes, both superior frontal gyri, and right superior temporal gyrus. Right biceps brachi biopsy showed almost complete cytochrome c oxidase (COX) deficiency. There were no ragged-red fibers. There was marked decrease of COX activity: 2.7 nmol/min/mg-mitochondrial protein (normal range: 33.0 +/- 16.1, n = 7) in the biopsied muscle. Open brain biopsy (after permission from the patient and his family) revealed gliosis and perivascular infiltration of lymphocytes and macrophages without vascular proliferation. There was no mitochondrial DNA mutations, deletion or duplication, including tRNA-Leu 3243, 8993, 3271, 9176, 3291, and tRNA-Lys 8344, 8356, and 8363. From these findings, a diagnosis of COX deficiency presenting as MELAS-like episodes was done. His mother also showed abnormality on aerobic exercise test, but she had no episode of stroke or neurological dysfunction. Six months later, his aphasia and apraxia of the right hand had resolved, and at discharge he was able to ambulate with a cane. Ten months later, he returned to his work. There has been no recurrence of neurologic symptoms over the next 3 years and 10 months. This patient appears to represent a rare case of adult onset COX deficiency presenting as MELAS-like episodes.
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PMID:[MELAS-like episodes in an adult case with cytochrome c oxidase deficiency]. 1523 72

A 79-year old man noticed paresthesia in all 4 limbs, quadriplegia and dysarthria, and then developed respiratory arrest requiring mechanical ventilation. After level of consciousness was improved, vertical gaze palsy, left hemifacial palsy (central type) and quadriplegia were noted. Brain magnetic resonance imaging (MRI) on day 9 revealed bilateral upper medial medullary infarction. In general, the vertical gaze center is thought to be present in the midbrain, including the rostral interstitial nucleus of the medial longitudinal fasciculus, posterior commissure and interstitial nucleus of Cajal. Few reports have described vertical gaze palsy due to medullary lesions. The upper medial medullary lesions, particularly the paramedian tract in the medulla, may have been responsible for vertical gaze palsy in this patient.
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PMID:[Bilateral medial medullary infarction presenting as vertical gaze palsy]. 1654 94

A 71-year-old man presented with quadriplegia, seizures, dysarthria, motor aphasia and urinary incontinence lasting for several years. The development of proteinuria and increased susceptibility to infections brought the physician's attention to possible underlying autoimmune diseases. Laboratory investigations revealed evidence for systemic lupus erythematosus (SLE) and antiphospholipid syndrome. Imaging studies showed obstructive hydrocephalus. Several courses of methylprednisolone therapies followed by maintenance therapy with low-dose steroid, ventriculoperitoneal shunt, and antihypertensives improved the proteinuria and dysarthria but not the urinary incontinence or dementia. A thromboembolic event in the central nervous system secondary to phospholipid antibodies or lupus activity may represent a pathogenetic basis for hydrocephalus. When encountering a patient with hydrocephalus but without apparent predisposing factors, it is always important to include SLE as a differential diagnosis.
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PMID:Hydrocephalus in an elderly man with systemic lupus erythematosus. 1951 33


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