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)

An account is given of a form of hereditary, cerebellar ataxia and photomyoclonus. Eight cases from 5 generations were affected. The disease seemed to be transmitted as an autosomal dominant trait. The age at onset usually varied between 35 to 40 years. The symptoms and signs consisted of a cerebellar ataxia, dysarthria and intention tremor. There was no nystagmus. All patients exhibited photomyoclonus and were extremely sensitive to photic stimuli. Other signs were dementia, kyphosis, pes cavus and lipoma localized in the nape of the neck, shoulders and back. Two patients had a partial syndrome with photonyoclonus and skeletal deformities. None of the patients suffered from epilepsy, In one case, histopathological examination revealed atrophy within the cerebellar cortex, dentate nucleus and the posterior columns of the spinal cord. It is concluded that this syndrome belongs to a groups of hereditary ataxias and myoclonus, and differs from myoclonic cerebellar dyssynergia (Ramsay Hunt) and alos from a variety of familial myoclonus and ataxia (Gilbert et al. 1963);
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PMID:Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. 113 Jan 71

The Chiari malformation is a condition characterized by herniation of the posterior fossa contents below the level of the foramen magnum, and is categorized into three types based on the degree of herniation. The authors review their surgical experience between 1975 and 1985 with 50 patients afflicted with symptomatic Chiari malformations. Any patient with associated myelomeningocele, tethered spinal cord, lipoma, or diastematomyelia was excluded from this series. Forty-one patients had Chiari I malformations, seven were classified as having Chiari II, and two as having Chiari III. The presentation of pediatric and adult patients was identical. Treatment was directed at the posterior fossa pathology. Seven patients with accompanying ventral bone compression underwent transoral decompression of the cervicomedullary junction, 42 had posterior decompressive procedures, and six received ventriculoperitoneal shunts. The posterior decompression included opening the outlet foramina of the fourth ventricle, occluding any communication between the spinal cord central canal and the obex, shunting the fourth ventricle, and placing a dural graft. Postoperatively, 20% of the patients are asymptomatic, 66% improved, and 8% stabilized; in 6% the disease has progressed in spite of multiple procedures. Preoperative signs that are predictive of a less favorable outcome include muscle atrophy, symptoms lasting longer than 24 months, ataxia, nystagmus, trigeminal hypesthesia, and dorsal column dysfunction (p less than 0.05, chi-square test). A model based on the presence or absence of atrophy, ataxia, and scoliosis at the time of the preoperative examination has been generated that allows prediction of long-term outcome at the 95% confidence level.
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PMID:Symptomatic Chiari malformations. An analysis of presentation, management, and long-term outcome. 274 41

Meningioma is the most common intracranial tumour and comprises over half of extramedullar tumours of spinal canal. The causes of meningiomas occurrence are mostly unknown. Genetic factors, hormonal disorders, injuries, viral induction and ionizing radiation may play certain role in its developing. There are several histological types of meningiomas; endothelial or syncytial--the most common form (64%), fibrilplastic--12%, anaplastic--11%, transitory--7%, angioplastic--%, psammoma--3%, angiomatous--1%, warty--very rarely. Authors have presented the case of a 53-year-old farmer treated in the Department of Otolaryngology Medical Academy in Bialystok due to lipoma located behind the ear. The lipoma was removed surgically under local anaesthesia. Post-operative course was uncomplicated. During laryngologic examination sensorineural hearing loss of left ear was established. Broaden audiologic and otoneurologic diagnostics revealed sensorineural hearing loss of left ear ranged between 20 to 80 dB when impedance was normal. Constant latent polydirectional nystagmus, pathologic vibratory test and asymmetric optokinetic nystagmus were confirmed in ENG exam. Magnetic resonance was performed as the central nervous system pathology was suspected. During the exam, 4 tumours of similar morphology located paracerebrally were fond. The tumours were bounded by wide base with dura matter and corresponded to meningiomas. After neurosurgical consultation, the patient was classified to surgical treatment. Frontotemporal dextral craniotomy was performed and partial meningiomas were removed. Post-operative course was uncomplicated. Transiently, narrowed visual field was observed. Audiologic parameters did not undergo change for the worse.
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PMID:[Multiple meningioma in 53 years old woman manifested only by unilateral hearing loss]. 1504 97