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)

Observation of neurosarcoidosis in a thirty-year-old black female characterised predominantly by bilateral facial nerve paralysis gave rise to a review of literature since 1978 and also to a comparison with an early study in 1963. As described 1963 the clinical picture is characterized by increased protein content of the CSF (33.8%), facial nerve paresis (25.5%), pleocytosis (23%), diabetes insipidus (21%), hemiparesis (17.2%), organic psychosis (16.9%), papilloedema (15.5%), ataxia (13%), convulsive seizures (12.5%), optic atrophy (12.5%), loss of hearing (12.2%), nystagmus (8.6%) and numerous other symptoms more rarely found. This corresponds to the symptoms of chronic basal meningitis with an infiltration in the neighbouring structures of brain and less frequently the spinal cord. In only 58.7% of the cases (presumably at the onset of sarcoidosis) was the bronchial tract (or the lungs) affected, in 11.5% the skin or the eyes. Although the clinical picture is clear enough the etiology has yet to be determined. Evidence of a pathogen or a pathogenic agent (analogous to berylliosis) has never been established to date. On the other hand there are some indications of a disturbance in the immune system, perhaps of a particular genetic foundation since sarcoidosis strikes black patients with conspicuous frequency. There exist more cases in one family. Exceeding expected random distribution, many patients have the HLA-Factor B 8 (on the chromosome 6) and DR 3. The Kveim-Test was in 71 cases positive, in 12 cases negative. The possibilities of carrying out studies of CSF - analogous to the studies of bronchial lavage - in the most cases of neurosarcoidosis have not been exhausted as to determine the activity of the T-lymphocytes, the interleucines, the angiotensin-converting enzyme while the Gallium 67 scintigraphy and other methods to determine the non-specific activity of the inflammation. The efficiency of the treatment with corticosteroids (Prednison or Triamcinolonacetonid) depends of the phase of the inflammatory process. 12% of the registered cases died.
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PMID:[Neurosarcoidosis. Comparative analysis of the clinical profile based on 537 cases from the world literature up to 1963 and from 1976-1988]. 240 26

The authors report a case of histiocytosis X which presented with neurological manifestations in a 20 year old man: episodes of headache with vomiting, followed, three months later, by the development of paralysis of the right 6th and 7th cranial nerves associated with nystagmus. The CT scan revealed a tumour-like lesion on the floor of the IVth ventricle with a long axis of 18 mm. The chest x-ray revealed diffuse nodular opacities in the pleural and apical regions with features suggestive of histiocytosis X. The diagnosis was confirmed by surgical biopsy of the typical pulmonary nodules which were rich in histiocytes with X bodies on electron microscopy. The neurological signs disappeared after one month of treatment with Prednisone (1 mg/kg/day) and Vincaleukoblastine (10 mg/week). By the 3rd month, the pulmonary lesions were reduced and the intra-ventricular formation had regressed by 40%. In the authors' series of 29 cases of confirmed histiocytosis X in adults, the present case is the only one with a clinical neurological presentation, apart from 3 cases of diabetes insipidus. A review of the literature confirms the rarity of this type of presentation. The suggestion of the diagnosis by the chest x-ray appearance enabled a dangerous neuro-surgical operation to be avoided.
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PMID:[Cerebral and pulmonary histiocytosis X. Neurologic manifestations disclosing a pseudotumoral formation on the floor of the 4th ventricle]. 633 82