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

A twelve-year-old girl with multiple sclerosis and peripheral neuropathy is reported. When nine years old, she was diagnosed as having Devic disease (optic atrophy and transverse myelitis). During the three years after onset of her illness, she suffered from three relapses and remissions of her multiple sclerosis. On the third occasion, neurological examination revealed signs of cerebellar dysfunction including ataxic gait, nystagmus and dysmetria, and absence of all tendon reflexes with muscle weakness especially on the left side. Markedly slowed conduction velocity in her ulnar nerve especially on the left and elevated CSF protein were noted. Biopsied sural nerve showed decreased density of myelinated fibers and a selective loss of large diameter fibers. Electron microscopy disclosed onion-bulb formation, myelin debris within Schwann cell cytoplasm and demyelinated axons. These findings showed demyelination and remyelination of the peripheral nervous system in this patient with multiple sclerosis. We discuss the relation of multiple sclerosis and peripheral neuropathy.
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PMID:A case of childhood multiple sclerosis with peripheral neuropathy. 300 68

A case of acute pulmonary edema without cardiac failure, infectious or toxic cause, revealing a Multiple Sclerosis (M.S.), one case of bradycardia during a bout in a known M.S. and one case of orthostatic hypotension without change of cardiac frequency, during a bout of a known M.S. are reported. The common point of these 3 cases is that during their autonomic failure, there were disorders pointing to the medulla oblongata: swallowing difficulties, rotatory nystagmus, vestibulo-cerebellar syndrome, sensory and motor defect of upper limbs. A plaque of M.S. in the medulla oblongata, particularly near the tractus solitarius could explain these cardio-pulmonary abnormalities unusual in M.S.
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PMID:[Cardio-respiratory anomalies in disseminated sclerosis]. 304 35

Internuclear ophthalmoplegia is a gaze disorder characterized by impaired adduction on the side of a lesion involving the medial longitudinal fasciculus with dissociated nystagmus of the abducting eye. Eleven patients with internuclear ophthalmoplegia (nine with clinical multiple sclerosis, two with clinical infarction) underwent MR imaging with spin-echo techniques on a 1.5-T system. Nine patients also had CT. MR showed focal or nodular areas of high signal intensity on T2-weighted images in the region of the medial longitudinal fasciculus in 10 of 11 patients. In one of four patients with internuclear ophthalmoplegia who had MR after intravenous gadolinium-DTPA, an enhancing ring lesion was seen in the region of the medial longitudinal fasciculus on short TR/TE images, indicating active blood-brain-barrier disruption, which correlated with this patient's recent-onset internuclear ophthalmoplegia. CT failed to show the lesions in all nine patients examined. This report demonstrates the superiority of MR in evaluating gaze disorders attributable to brainstem dysfunction, such as internuclear ophthalmoplegia, and correlates MR findings with the relevant neuroanatomy of the medial longitudinal fasciculus.
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PMID:Internuclear ophthalmoplegia: MR-anatomic correlation. 310 83

We report two patients with chronic encephalomyelitis due to Borrelia burgdorferi in whom the definite diagnosis was delayed because of atypical clinical features. The first patient presented with chronic spastic paraparesis, slight ataxia and nystagmus of several years' duration. A tentative diagnosis of multiple sclerosis was made in spite of important abnormalities of the CSF biological characteristics. The second patient presented with an acute aphasia and a bilateral Babinski's sign. He was thought to suffer from benign herpetic meningoencephalitis. Several months later, as the patient experienced relapses with cerebellar and spinal cord involvement, falsely positive tests for syphilis were found and an antibiotic treatment was given. High protein content, low glucose levels, pleocytosis and oligoclonal bands were observed in all CSF samples, but the definite diagnosis was based on the detection of serum and CSF antibodies against B. burgdorferi.
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PMID:[Borrelia burgdorferi encephalomyelitis]. 318 97

Downbeat nystagmus has been associated with an increasing number of neurologic disorders, yet, it has only rarely been described in multiple sclerosis. Two patients with downbeat nystagmus secondary to multiple sclerosis are presented. In one, the nystagmus cleared completely in three weeks. In the other, it has persisted unchanged for 2 1/2 years.
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PMID:Downbeat nystagmus secondary to multiple sclerosis. 319 Jan 16

Otoneurological and ultra low field MRI findings in multiple sclerosis patients: 22 patients suffering from multiple sclerosis (MS) underwent thorough neurological and otological examination, extensive ENG testing and Magnetic Resonance Imaging (MRI) examination of the central nervous system. All patients fulfilled the Schumacher criteria for a diagnosis of definitive MS. 20 of the patients had been included in previous otoneurological studies three to five years ago. The general disability assessed according to Hyllested's scale was: Class 1-7, Class 2-4, Class 3-6, Class 4-3, Class 5-2 patients. Thus 11 patients had none or only slight disability. Nevertheless, all patients showed abnormal findings when classified according to the Kurtzke disability scale, which reflects the involvement of separate neuronal entities. The ENG examination revealed abnormal findings in all patients. The most common abnormalities found were as follows: abnormal pendular test 19, ocular fixation index 18, optokinetic nystagmus 14, saccadic eye movements 14 and spontaneous nystagmus 12. 14 patients had uni- or bilateral abnormally slow adduction movements in the saccadic test consistent with internuclear ophthalmoplegia (INO), which is caused by a lesion of the brain stem. MRI examination of the 21 patients studied revealed abnormal findings consistent with MS in sixteen cases. The lesions were unilateral in 5 and bilateral in 11 patients. The most common location for these abnormal findings consistent with MS plaques were in the white matter around the lateral ventricles. Plaques in the brain stem and/or cerebellum were found in only two cases despite numerous clinical and otoneurological findings that indicated the presence of functional lesions in these areas.
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PMID:Otoneurological and ultra low field MRI findings in multiple sclerosis patients. 320 65

A young adult who presents with periodic vertigo, diplopia, and tinnitus, later followed by progressive ataxia, may not have multiple sclerosis as might initially be suspected, but rather may represent a type of familial spinocerebellar degeneration previously described by Farmer and Mustian as "vestibulocerebellar ataxia." We recently encountered a patient who presented with these symptoms, and who was found to have downbeat nystagmus, ocular dysmetria, skew deviation, optokinetic dissociation, and a vertical gain bias on horizontal eye movements. Although family involvement was specifically denied by the patient, seven members of her family representing four generations were examined, and found to have similar findings. The importance of a careful neuro-ophthalmologic examination in each available family member of any patient presenting with this constellation of symptoms is emphasized. A discussion of the spinocerebellar degenerations, differential diagnosis, and literature review are included.
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PMID:Neuro-ophthalmologic findings in vestibulocerebellar ataxia. 348 54

The eye movements of 100 patients with a definite diagnosis of multiple sclerosis were systematically examined using simple clinical tests, whose reliability had been first verified on 40 healthy controls. In 76 of the patients one or more eye movement disorders were observed. The most frequent finding was dissociation of the horizontal saccades due to mainly abortive forms of Internuclear Ophthalmoplegia (INO). In about half of these cases other signs of INO were present. The majority of the remaining pathological findings could be attributed to cerebellar disorders which mainly consisted of saccadic hypermetria, disordered VOR-suppression or rebound nystagmus.
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PMID:[Clinically detectable oculomotor disorders in multiple sclerosis. Results of studies on 100 patients]. 358 51

We looked for correlations between otoneurological findings and neurological signs in multiple sclerosis (MS). 41 patients were tested for: spontaneous and caloric nystagmus, horizontal pursuit eye tracking, full-field optokinetic nystagmus and eye movements. The findings were compared with the course of the disease (progressive or remitting), age at onset of MS and disability, in order to test the predictive value of this type of test. The correlation between otoneurological abnormalities and lesion site is very high for brainstem lesions. Subclinical brainstem lesions were detected in 66% of patients with optic neuritis only and in 42% of those with spinal cord involvement only. Eye movement disorders are more frequent (p less than 0.1) in disease of long duration. The vestibular examination was altered in 100% of patients with clinically definite and probable MS, in 91% of those with possible and in 80% of those with suspected MS. No specific otoneurological pattern was identified. No significant correlation with age at onset or with disability was found.
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PMID:Value of otoneurological tests in the staging of multiple sclerosis. 365 69

Twenty-four patients with down beating nystagmus (DBN) underwent magnetic resonance imaging (MRI) of the head. MRI provided diagnostic images in Arnold-Chiari malformation (6 cases), cerebellar atrophy (6 cases), 1 case with a prepontine-medullary epidermoid tumour and was helpful in the diagnosis of 2 patients with multiple sclerosis and 1 with a ponto-cerebellar infarct. Multiple cerebral hemisphere lesions were found in 6 patients (5 of them over 60 years of age) in whom no diagnosis was made. All cases of DBN, plus 3 additional patients with Arnold-Chiari malformation and other types of nystagmus, were neuro-otologically assessed. Sensitivity of the nystagmus to head tilt with respect to the gravity vector had no localizing value. Impaired horizontal vestibulo-ocular reflex suppression occurred more frequently in those patients with abnormal posterior fossa MRI. Pure torsional nystagmus, and DBN with a strong torsional component, in patients with Arnold-Chiari malformation was associated with syringomyelia. Magnetic resonance is the imaging method of choice for investigating patients with DBN.
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PMID:Down beating nystagmus: magnetic resonance imaging and neuro-otological findings. 369 26


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