Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 36-year-old man was admitted to Kanto Chuo Hospital because of hearing loss and dysphagia. On admission physical and neurological findings revealed obesity, hypertension, nystagmus, right hearing loss, dysarthria, and dysphagia. Routine laboratory findings disclosed leukocytosis, liver dysfunction, hypercholesterolemia, proteinuria, and glucosuria. Immunological, coagulopathic, and endocrinological findings, electrocardiogram, echocardiogram, and brain CT scan were unremarkable. He was diagnosed as brainstem infarction, and then conservative therapies were begun. Seven hours after admission, he suddenly fell into coma and apneutic state, requiring artificial ventilation. The next day he was fully conscious, but could'nt make any voluntary movements except for vertical eye movements, suggesting locked-in syndrome (LIS). Brain MRI showed infarction of pons, medulla oblongata, and right cerebellum. Cerebral angiography revealed hypoplasia of bilateral vertebral arteries, a persistence of right primitive trigeminal artery (PTA), and retrograde blood flow of basilar artery from the PTA. Then he made a rapid recovery, and on 80th day he was discharged only with right hearing disturbance and mild left cerebellar sign. We speculated that hypoplasia of the bilateral vertebral arteries caused the brain infarction, and that back flow of the basilar artery from the PTA, in part, contributed to the early recovery from the LIS.
 ...
PMID:[Early recovery from locked-in syndrome due to brain infarction in a young patient with hypoplasia of bilateral vertebral arteries and a persistence of primitive trigeminal artery]. 895 55

We report a 56-year-old man who developed progressive paraparesis. He was apparently well, except for left Bell's palsy which developed on May 9 of 1994, for which he received stellate ganglion block on the left side more than ten times until July 2nd of 1994, when he noted pain in his left shoulder and in his lumbar region. On July 5th, he noted some difficulty in urination. On July 6th, he noted tingling sensation in his four extremities and difficulty in gait. He was admitted to another hospital where he was treated with intravenous infusion of glycerol. After this treatment, his gait and sensory disturbance showed some improvement, however, on July 7th, his shoulder and lumbar pain worsened, and he became unable to stand. His temperature went up to 39 degrees C on the next day. Lumbar CSF on that day contained 119 cells/microliters, 112 mg/dl of protein, and 53 mg/dl of sugar. He was transferred to our hospital on July 14th. His past medical history revealed that he had suffered from frequent bouts of osteomyelitis since the age of 13 years. He was operated on several times on osteomyelitis. He had been treated on his tooth ache until shortly before the onset of the present illness. He also received steroid hormone for his Bell's palsy. On admission, his consciousness varied from alert to stupor. His BP was 150/100 mmHg, HR 98/min and regular, BT 39.4 degrees C. The bulbar conjunctiva appeared somewhat icteric. Otherwise, general physical examination was unremarkable. On neurologic examination, there was no apparent dementia. Higher cerebral functions appeared intact. The optic discs were flat. Pupils were round and isocoric reacting to light and accommodation promptly. Ocular movements were full without nystagmus. Some exophthalmos was noted bilaterally. The sensation of the face and facial muscles were intact. The remaining cranial nerves also appeared intact. Nuchal rigidity was present. He was unable to stand or walk. Muscle strength was markedly diminished in all four limbs; manual muscle testing revealed 1 to 2/5 weakness in both upper and lower extremities bilaterally. Muscle stretch reflexes were decreased or lost in both upper and lower limbs, but the plantar response was extensor on the right. Sensation appeared to be diminished in legs, but detail was not clear because of disturbance of consciousness. Pertinent laboratory findings were as follows: WBC 12,800/microliter, GPT 58 IU/l, total bilirubin 2.65 mg/dl, and CRP 16.8 mg/dl. Cerebrospinal fluid contained 34 cells/microliter (approximately two thirds were neutrophils), RBC 1,110/microliter, 2,949 mg/dl of protein, and 119 mg/dl of glucose; stapylococcus aureus was cultured from the CSF. Myelogram showed a filling defect in the anterior epidural space between the low thoracic and the upper lumbar region. The patient was treated with cephotaxim, aminobenzyl penicillin, and chloramphenicol. On the second hospital day, his BT was still 39 degrees C and he was agitated His weakness was worse than the previous day. Spinal MRI was attempted; as he was agitated 5 mg of diazepam was given intravenously at 4 PM. His respiration was rapid and somewhat shallow. At 6 PM, gadolinium DTPA was injected intravenously; at that time, he was breathing and pupils were 3 mm on both sides. At 6:35 PM, an examiner noted that he stopped breathing; the left pupil was dilated to 5 mm. Cardiopulmonary resuscitation was initiated immediately, and intubation was performed. He was placed on a respirator. His blood pressure did not reach 100 mmHg; he was in deep coma. Cardiac arrest occurred at 8:53 AM on the next morning. The patient was discussed in a neurological CPC. Most of the participants thought that the patient had either spinal epidural empyema or spinal subdural abscess. The question was what might be the original focus of infection. Three possibilities were considered, i.e., stellate ganglion block, teeth infection, and osteomyelitis...
 ...
PMID:[A 56-year-old man with fever, backache and tetraparesis]. 896 86

Stroke caused by occlusion of an intracranial artery following blunt head trauma is a rare event. Traumatic dissections of the middle cerebral artery have been reported while thrombosis is very rare. We describe a case of fatal thrombosis of the left middle cerebral artery that occurred in the time interval between 2 and 6 hours after an apparently minor head trauma in a motor vehicle accident. The 25-year-old woman was in normal health on admission to the hospital. Two hours later the patient manifested nystagmus and vomiting. Six hours later she was aphasic with right hemiparesis. Twenty-four hours later the patient was comatose. A third CT scan performed at that time showed a wide infarct of the left cerebral hemisphere and a hyperdense left middle cerebral artery. The patient died 5 days after the collision. The autopsy confirmed the presence of the cerebral infarct and revealed thrombosis of the left middle cerebral artery. Microscopically, the transverse rupture of the intima and of the elastic lamina along the whole circumference of the vessel was found at the beginning of the thrombosed tract. We conclude that the blunt head trauma caused a partial rupture of the wall of the left middle cerebral artery with consequent thrombosis of the vessel and cerebral infarct. Based on the anatomy of the middle cerebral artery and on the review of the morphological literature we propose that the 2 types of lesion, the dissection and the thrombosis, that may follow closed head trauma, might depend on a common denominator that is the primitive rupture of the intima and elastic lamina.
 ...
PMID:Middle cerebral artery thrombosis following blunt head trauma. 949 32

Central nervous system involvement in systemic lupus erythematosus (SLE) requires immediate treatment. We report a case in a 30-year-old woman. Clinical features associated asthenia, headache, right nystagmus and coma. A mechanical ventilation was started. The neurologic pattern appeared three months after an initial treatment with pulsed doses of glucocorticoid (500 mg per day for 3 days) and one month after an oral cyclophosphamid regimen (50 mg twice a week). The cerebral involvement was evidenced by MRI and comparative analysis of the antinuclear auto antibodies (ANA) and the complement components in cerebral spinal fluid (CSF), pleural fluid and serum. The MRI slices showed a well-defined meningeal focal lesion. CSF-cell count was normal. CSF-proteins were elevated. ANA were positive, total complement (UI/l) was low, C4 component (g/l) was 0.11, undetectable and 0.25 respectively in plasma, CSF fluid and pleural fluid. The ANA specific pattern was anti-Sm2. We affirmed that specific cerebral injury was present because there were clinical and imaging features and a decrease of the C3 and C4 component in the CSF. The treatment associated in travenous pulsed doses of methylprednisolone (1000 mg per days for 3 days) and cyclophosphamid (500 mg per day for three days). Mechanical ventilation was with drawn one day after the end of the pulse therapy. The diminution of the complement component could help improving cerebral involvement of SLE. More clinical studies are required.
 ...
PMID:[Cerebrospinal fluid complement and antinuclear antibodies in lupus meningoencephalitis]. 977 91

Acute intentional overdoses of disulfiram (app. 30 g) is reported in 15-years-old boy. The neurological disturbances as nystagmus, coma, seizures and than impairment of memory and perception were dominated in the clinical picture. During MRI examination the areas of different signal from corpus callosum were detected which can be referred to focus of demyelinisation. The patient recovered and was discharged from the hospital after 30 days. Neuropsychological examinations have suggested dysfunction of CNS. The control MRI examination 90 days later, did not reveal any pathological changes in the brain.
 ...
PMID:[Suicidal self poisoning with disulfiram in a 15-year old boy with resulting encephalopathy]. 1046 1

We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal in the first months of life. At the age of 5 mo, he presented severe generalized hypotonia, nystagmus, and absent eye contact. Laboratory examination showed increased lactate and pyruvate in both serum and cerebrospinal fluid. Brain magnetic resonance imaging revealed multiple necrotic lesions in the basal ganglia, brain stem, and thalamus. Muscle histopathology was unremarkable, whereas respiratory chain enzyme analysis revealed a severe complex I deficiency. The patient died after an acidotic coma at age 9 mo. Sequence analysis of the entire mtDNA disclosed a new T10158C mutation with variable tissue heteroplasm (muscle: 83%; blood: 48%). The mutation was undetectable in the blood of his unaffected mother. The transition changes a serine residue into a proline, in a highly conserved region of the NADH dehydrogenase subunit 3 (ND3). This is the first description of a mitochondrial ND3 gene in Leigh syndrome with early lethality.
 ...
PMID:A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. 1476 13

Familial hemiplegic migraine (FHM) is an autosomal dominant subtype of migraine with hemiparesis during the aura. In over 50% of cases the causative gene is CACNA1A (FHM1), which in some cases produces a phenotype with cerebellar signs, including ataxia and nystagmus. Recently, mutations in ATP1A2 on chromosome 1q23 encoding a Na+/K+ -ATPase subunit were identified in four families (FHM2). We now describe an FHM2 pedigree with a fifth ATP1A2 mutation coding for a G301R substitution. The phenotype was particularly severe and included hemiplegic migraine, seizure, prolonged coma, elevated temperature, sensory deficit, and transient or permanent cerebellar signs, such as ataxia, nystagmus, and dysarthria. A mild crossed cerebellar diaschisis during an attack further supported the clinical evidence of a cerebellar deficit. This is the first report suggesting cerebellar involvement in FHM2. A possible role for CACNA1A in producing the phenotype in this family was excluded by linkage studies to the FHM1 locus. The study of this family suggests that the absence of cerebellar signs may not be a reliable indicator to clinically differentiate FHM2 from FHM1.
 ...
PMID:A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 1545 25

Chlorophenoxy herbicides are used widely for the control of broad-leaved weeds. They exhibit a variety of mechanisms of toxicity including dose-dependent cell membrane damage, uncoupling of oxidative phosphorylation and disruption of acetylcoenzyme A metabolism. Following ingestion, vomiting, abdominal pain, diarrhoea and, occasionally, gastrointestinal haemorrhage are early effects. Hypotension, which is common, is due predominantly to intravascular volume loss, although vasodilation and direct myocardial toxicity may also contribute. Coma, hypertonia, hyperreflexia, ataxia, nystagmus, miosis, hallucinations, convulsions, fasciculation and paralysis may then ensue. Hypoventilation is commonly secondary to CNS depression, but respiratory muscle weakness is a factor in the development of respiratory failure in some patients. Myopathic symptoms including limb muscle weakness, loss of tendon reflexes, myotonia and increased creatine kinase activity have been observed. Metabolic acidosis, rhabdomyolysis, renal failure, increased aminotransferase activities, pyrexia and hyperventilation have been reported. Substantial dermal exposure to 2,4-dichlorophenoxy acetic acid (2,4-D) has led occasionally to systemic features including mild gastrointestinal irritation and progressive mixed sensorimotor peripheral neuropathy. Mild, transient gastrointestinal and peripheral neuromuscular symptoms have occurred after occupational inhalation exposure. In addition to supportive care, urine alkalinization with high-flow urine output will enhance herbicide elimination and should be considered in all seriously poisoned patients. Haemodialysis produces similar herbicide clearances to urine alkalinization without the need for urine pH manipulation and the administration of substantial amounts of intravenous fluid in an already compromised patient.
 ...
PMID:Poisoning due to chlorophenoxy herbicides. 1557 61

Basilar artery occlusion (BAO) is generally associated with a high mortality rate and a poor functional outcome in survivors. Recently, we encountered a patient with BAO, initially manifesting as vertigo and rebound nystagmus, subsequently followed by bilateral sudden deafness and dysarthria and terminating in a coma state within an interval of 6 h. A review of his history showed he had had two episodes of transient vertigo 2 weeks before the major stroke, and the neurological decline of BAO was heralded by the vertiginous symptoms. Restated, patients with BAO often have transient vertiginous attacks preceding fatal stroke. Therefore, those with vertigo and nystagmus may be signaling a forthcoming stroke event, something that should be considered for clinicians seeing vertiginous patients.
 ...
PMID:Vertigo with rebound nystagmus as an initial manifestation in a patient with basilar artery occlusion. 1559 55

Ethylene glycol is recognised as a potentially lethal poison if ingested. Approximately 100 mls may be fatal in a 70 kg adult. Current Toxbase guidelines are the accepted standard of treatment of such poisonings in the United Kingdom. These guidelines suggest that symptoms of significant poisoning are usually present within 30 minutes of ingestion i.e. ataxia, dysarthria, nystagmus, nausea and vomiting, haematemesis, coma and convulsions. In the absence of these symptoms, metabolic acidosis or ethylene glycol concentration more than 8 mmol/l a single loading dose of ethanol and observation were the recommended course of management until recently. We report a case of a patient who remained relatively asymptomatic for almost 24 hours but then developed clinical symptoms with marked metabolic acidosis and renal impairment requiring intensive treatment including haemodialysis.
 ...
PMID:Toxic alcohol but not intoxicated--a case report. 1616 3


<< Previous 1 2 3 4 5 6 7 8 Next >>