Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A histologically benign tumor of the temporal bone became a life-threatening neoplasm. Previous surgical procedures and a course of radiotherapy failed to arrest the growth of the neoplasm. Our therapeutic objectives were fourfold: (1) ventilation of tumor histology; (2) total tumor removal without an increase of the neurological deficit; (3) watertight closure of the dural defect; and (4) aesthetically acceptable scalp reconstruction. These goals were achieved by performing temporal bone resection extending from the foramen lacerum to near the foramen magnum. The external soft-tissue defect was reconstructed with a contralateral scalp flap. The patient recovered satisfactorily from her surgery and achieved improvement of her ataxia and level of consciousness.
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PMID:Extended temporal bone resection. 683 20

Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system with a propensity for location within the lateral ventricle in children. We report a case of a 14-year-old girl who presented with transient facial paresis and ataxia. Her imaging showed a non-enhancing intra fourth ventricular mass, the histology of which was reported as CPP. The atypical clinical and radiological features in this case are discussed. Choroid plexus papillomas should be considered in the differential diagnosis of non-enhancing fourth ventricular masses.
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PMID:Choroid plexus papilloma presenting as a non-contrast-enhancing fourth ventricular mass in a child. 1977 May 55

We describe a case of cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma. A 28-year-old woman developed progressive ataxia with hyporeflexia at the age of 19. Brain MRI showed progressive cerebellar atrophy. Neurophysiological studies, screening of immune-mediated ataxias, oncological markers, vitamin E and genetic tests for spinocerebellar ataxia types 1,2,3, Friedreich ataxia and POLG1 were negative. Anti-Hu antibodies were positive in Western blot and indirect immunofluorescence (1:640). Total-body computed tomography revealed a mediastinum mass; the histological diagnosis was maturing ganglioneuroma. Immunohistochemistry showed a mild reaction between the tumor and the patient's serum, and no reaction between the tumor and control serum. After surgery, serum anti-Hu titer decreased, while ataxic symptoms initially worsened and then stabilized. Ganglioneuroma is a benign tumor, usually derived from the maturation of a neuroblastoma. The benign histology and the presence of anti-Hu antibodies could be related to the positive oncological prognosis and to the slow clinical course mimicking a degenerative ataxia.
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PMID:Paraneoplastic cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma. 2576 59

A Japanese man in his 30s who had congenital cerebral palsy was found unresponsive in bed. His death was confirmed after resuscitation attempts. He had a history of occasional falling (despite the use of walking sticks and a wheelchair) owing to a slowly progressive gait disturbance, and had a medical examination without full neurological re-examination. Autopsy revealed gangliocytoma in the medulla oblongata, which was diagnosed as the cause of death. Although gangliocytoma is a well-differentiated benign tumor, the almost total replacement of the medulla oblongata by the tumor cells was assumed to result in ataxia via the olivocerebellar tract and secondary cerebellar atrophy, followed by central hypoventilation and death of the patient. The symptoms caused by gangliocytoma may be overlooked owing to long-standing cerebral palsy.
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PMID:Autopsy case of undiagnosed gangliocytoma in the medulla oblongata complicated with cerebral palsy. 2621 May 4