Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a rare case of thalamic germinoma with crossed aphasia in a dextral. A patient, 17-year-old righat-handed male, was admitted to Nippon Medical School Hospital with chief complaints of headache, abnormality of visual field and speech disturbance. There were pigmentations on the back of hand, foot and the perineum. Neurological examination revealed left homonymous hemianopsia, right slight degree of ptosis, left facial palsy, a mild paresis of the left upper extremity and motor aphasia. Right carotid angiography showed marked unrolling and midline shift of right anterior cerebral artery. CT scan revealed ring-like high density area in the right thalamic region, which was enhanced after constant infusion. Brain scintigraphy also showed an abnormal accumulation at the same site. The hen-egg sized tumor of 40 g. weight was almost totally removed by the right fronto-parietal craniotomy. The tumor was characterized histologically by the so-called two cell pattern with teratomatous components. As postoperative treatment local injection of adriamycine, irradiation and immunotherapy with picibanil were performed, and then left hemiparesis was markedly improved without sign of recurrence. Language evaluation was performed after operation. There were dysarthria, remarkable word amnesia, paraphasia and perseveration. Repetition was also impaired. His speech function was concluded to be a mixed type aphasia mainly composed of Broca's aphasia. The speech function of thalamus and crossed aphasia with dextrales were discussed.
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PMID:[A case of thalamic germinoma with crossed aphasia in a dextral (author's transl)]. 743 99

We studied the clinical features and molecular genetics of a family, afflicted with a form of atypical parkinsonism, originating from the Madeira Islands of Portugal. We examined four affected individuals and reviewed clinical information on one other affected family member. Mean age at onset was 31 years. Parkinsonism (akinesia, rigidity, gait disturbance) was the most prominent feature in advanced disease. Levodopa responsiveness with peak-dose dyskinesia was present in one individual. Initial symptoms and other clinical features were variable and included other extrapyramidal signs (dystonia, action tremor of the limbs and bulbar muscles, synkinesis), ophthalmologic abnormalities (ptosis, slow saccades, progressive external ophthalmoplegia, hypometric saccades, saccadic pursuit movements), speech abnormalities (dysarthria, hypernasality), cortical impairment (dementia, frontal lobe dysfunction, palilalia, perseveration), minor cerebellar signs (dysmetria, gait ataxia), pyramidal abnormalities (spasticity, hyperreflexia), and peripheral nervous system abnormalities (propioceptive loss, areflexia, distal weakness, atrophy). The length of trinucleotide repeats in the MJD1 gene was in the normal range for all affected individuals.
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PMID:Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. 915 59

We report a rare presentation of an anteromedial thalamic infarct in a 50-year-old woman with acute onset left eye ptosis, vertical gaze paresis and confusion. MRI identified an acute left anteromedial thalamic infarct with a severe left P1 stenosis. Thalamic infarcts are associated with marked neurobehavioural disturbances with dominant thalamic lesions causing language deficits, verbal perseveration, memory disturbances, abulia and disorientation. Ocular movement deficits can also be present and typically accompany paramedian lesions. Rarely, patients can develop an ipsilateral ptosis. We discuss these symptoms and review the literature.
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PMID:Anteromedial thalamic infarct: a rare presentation. 2972 71