Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, in which a pituitary growth hormone (GH) secretion deficiency of hypothalamic origin was revealed through neuro-endocrinological examinations, was described. The case was a 10-year-old girl, who had been suffering from generalized tonic seizures since age 5, four episodes of alternating hemiplegia since age 6, stunted growth since age 7, and simple partial motor seizures as well as gelastic seizures since age 8. Marked elevation of lactate and pyruvate in both serum and CSF, abundant ragged red fibers in biopsied muscle, and low density areas in the left occipital lobe and bilateral globus pallidus in addition to diffuse brain atrophy on CT scan and MRI of the head were demonstrated, although the activities of muscle enzymes complex I-IV were within normal ranges. Pituitary GH secretion was deficient under the loadings with insulin, L-DOPA, sleep, and a single growth hormone releasing factor (GRF) administration, but normal GH response was registered under the repetitive stimulation with GRF. Activities of other hormonal axes were normal. It is likely that short stature commonly observed in MELAS patients is due to hypothalamic dysfunction, which might be brought out by chronic ischemia and energy deficiency of the diencephalon based upon mitochondrial abnormality of that region. It is likely that gelastic seizure in this case is due to hypothalamic dysfunction.
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PMID:[Hypothalamic GH Deficiency and gelastic seizures in a 10-year-old girl with MELAS]. 187 57

A case of adult pilocytic astrocytoma in the right temporal lobe is reported here. The patient was a twenty-four year old man, who came to the neurological division of our hospital on October 6, 1987 because of repeated consciousness-loss attacks accompanied with uncinate fit. He had no neurological deficits. However, an EEG revealed spike-and-wave complexes in the right temporal region, and a CT scan showed a small cystic lesion in the right temporal lobe. A diagnosis of psychomotor seizure was made, and the administration of anticonvulsants was started. The incidence of attack then decreased, but after approximately two years of drug therapy the attacks increased again. A CT scan was again performed, and revealed that the lesion in the right temporal lobe was enlarging. Also a noticeable enhanced lesion, identified as a mural nodule was found in the post-contrast enhancement study. A brain tumor was then suspected, and he was admitted to the neurosurgical division on October 11, 1989. He had no neurological deficits on admission. An MRI showed a low intensity lesion in the T1 weighted image, and a high intensity lesion in the T2 weighted image. A cystic lesion with a marked enhanced mural nodule was also found in the base of the right temporal lobe, according to the Gd enhancement study. Perifocal edema was not recognized. Cerebral angiography showed no positive findings. Positron emission tomography (PET), using H2(15)O, revealed low perfusion at or around the lesion, and PET using [11C]-methionine revealed an accumulation of methionine at the lesion. A diagnosis of low-grade glioma was made, and a right temporal craniotomy, for the purpose of totally removing the tumor was performed on October 26, 1989.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of adult pilocytic astrocytoma in the right temporal lobe]. 189 Oct 62

We report a case of infantile spasm induced by hemisphere pachygria in which ultrasound and MRI provided precise anatomic information of hemisphere pachygria and Tc-99m HMPAO SPECT scintigraphy supplied an accurate assessment regional cerebral blood flow of infantile spasm during a seizure.
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PMID:Infantile spasm induced by hemispheric pachygyria ultrasound, MRIand Tc-99m HMPAO SPECT. 189 Dec 68

Neurologic manifestations, afflicting up to 70% of SLE patients, include psychosis, seizures, chorea, neuropathies, and stroke. MRI is useful in evaluation of lupus patients and several reports have documented cerebral atrophy or focal hyperintensities. We report an unusual MRI appearance in a 56-year-old woman with SLE, diagnosed on the basis of pleuritis, lymphopenia, anti-DNA antibodies, and neurologic involvement. She reported recent onset of Raynaud's phenomenon and generalized macular rash. She presented after two months of gradual deterioration with memory loss, flattened affect, dysphagia, dysarthria, anomia, and somnolence, without focal neurologic signs. Investigations included elevated ESR, reduced complement, normal CSF without oligoclonal bands, negative viral serology, normal hormone and vitamin levels, normal renal and hepatic function. Neuropsychologic testing showed widespread impairment (WAIS-R: FSIQ-63; WMS-69; DRS-98; RCPM-14; WAB AQ-78.8). CT was normal but MRI showed strikingly symmetric, confluent hyperintensities extensively involving cerebral and cerebellar white matter on T1 and T2 weighted scans. Basal ganglia and subependymal and subcortical white matter were spared. Treated with prednisone, the patient made a gradual, but incomplete, recovery. These MRI findings may reflect widespread vasculopathy or direct immunologic brain insult with or without immunologic blood-brain barrier disruption.
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PMID:Dementia with leukoencephalopathy in systemic lupus erythematosus. 191 71

Astrocytic tumours are frequent, accounting for nearly 50% of all brain tumours. They are divided into three groups: benign astrocytomas, anaplastic astrocytomas and malignant glioblastomas. The usual clinical manifestations of benign astrocytic tumours are epileptic seizures, whereas those of glioblastomas are rapidly progressing neurological deficits. These lesions show fairly characteristic neuroradiological features which have been largely studied. Injections of iodine-based or paramagnetic contrast media are important since they help in tumour grading: low-grade tumours are not enhanced, while glioblastomas are almost invariably enhanced. MRI seems to be indispensable for the study of astrocytic tumours: it provides an excellent anatomical analysis of the lesion during preoperative or pretherapeutic evaluation, and it is the only available method to confirm low-grade lesions that have passed unnoticed or have merely been suspected at CT. To avoid missing these tumours, every adult presenting with recent onset epileptic seizures should be explored by MRI using T2-weighted spin-echo sequences.
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PMID:Astrocytic tumours. 191 80

Imaging findings of morphology and regional cerebral blood flow in two patients suffering from epileptic seizures are presented. CT and MRI revealed heterotopic gray matter as a probable structural correlate, causing the seizure disorder. 99mTc hexamethyl-propylenamine oxime (HM-PAO) SPECT demonstrated focally increased regional cerebral blood flow in both patients in the areas of their heterotopic lesions. Heterotopic and orthotopic gray matter seem to have similar features in terms of regional perfusion. A focally increased brain perfusion in interictal epileptic patients may indicate an underlying migration anomaly.
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PMID:Increased rCBF in gray matter heterotopias detected by SPECT using 99mTc hexamethyl-propylenamine oxime. 192 44

A 10-year-old girl had an infarction in the left brain during an acute viral meningoencephalitis. She initially showed seizure, unconsciousness and fever, and right hemiplegia gradually developed. She died at the 48th day of disease from respiratory disturbance and renal failure. Cranial MRI during the acute phase of the disease, when there was no clinical sign of right hemiplegia, showed a high intensity lesion in the left parietal and occipital areas on T-2 weight image. Autopsy disclosed the findings suggesting viral encephalitis, including multiple focal necrosis, perivascular round cell infiltration, proliferation of glial cells and spongy degeneration with some intranuclear inclusion bodies, and infarction in the left hemisphere. These findings suggest that T-2 high intensity lesion on MRI reflected infarction.
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PMID:[A case of brain infarction associated with viral encephalitis: MRI and pathological findings]. 193 Nov 68

Progress in neuroimaging has led to a considerable change in our knowledge of cerebral venous thrombosis (CVT). Together with a series of 76 cases, a review of literature is presented. CVT is a far from negligible variety of stroke. It may occur at any age and despite numerous causes (nowadays mostly non infective), the proportion of cases of unknown aetiology remains around 25%. Superior sagittal sinus and lateral sinus are the most frequently involved, often associated with cortical vein thrombosis. Cavernous sinus thrombosis remains the most common form of septic thrombosis. Thrombosis of the galenic system and of cerebellar veins are uncommon. The clinical picture is extremely variable with a mixture of focal signs (deficits or seizures) and symptoms of raised intracranial pressure. The mode of onset is also variable, over hours, days, weeks or months. The presentation can thus be very misleading, simulating an arterial stroke or an abscess, an encephalitis, a tumor or a pseudo-tumor cerebri. CT scan is crucial to rule out other conditions and angiography to confirm the diagnosis of cerebral venous thrombosis. MRI is very performing since it visualizes the thrombus itself and allows a non invasive follow up. Most cases have a benign course but mortality is still around 30% in infective cases and 10% in non infective ones. Although it has long been debated, the benefit of anticoagulant (heparin) is now well established.
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PMID:[Cerebral venous thrombosis. Report of 76 cases]. 194 Jun 50

A 21-year-old male with SLE developed seizure, loss of consciousness and focal signs referable to involvement of the front-temporal brain regions. MRI (magnetic response imaging) image revealed high signal areas in the temporal lobes. By these findings, herpes simplex encephalitis (HSE) was suspected at first. But neither isolation of herpes simplex virus nor HSV specific IgM by ELISA was detected. Acyclovir administration by intravenous infusion was'nt effective but corticosteroid pulse therapy was effective. The level of anticardiolipin antibody was very high. Finally, the diagnosis of CNS-lupus with HSE-like characteristics was made in this case.
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PMID:[A case of systemic lupus erythematosus with the central nervous system manifestations (CNS-lupus) mimicking herpes simplex encephalitis (HSE)]. 194 88

From 1988 to 1990, we observed five cases of aseptic dural sinus and cerebral venous thrombosis, all in non-smoking women (age 18 to 47 years) receiving low dose oral contraceptives. Treatment consisted of full anticoagulation over 2 to 6 months, over which time the neurologic symptoms disappeared almost completely. Extensive tests of the blood clotting system in 4 patients after 6 to 19 months revealed a reduction of free protein S in 2 patients with a history of contraceptive use over several years, and normal results in 2 patients in which the sinus thrombosis occurred within the first 6 weeks of use of the oral contraceptive. Whether the protein S deficiency was congenital or caused by the oral contraceptive cannot be decided retrospectively. Even modern oral contraceptives seem to lead to an increased incidence of sinus thrombosis. Initial symptoms of sinus thrombosis include headache and somnolence, followed either by focal neurologic deficits (often associated with focal seizures) or by signs of increased intracranial pressure. CT scans show venous infarcts or general brain edema and may specifically show the "empty triangle sign" and "delta sign". The CT scan may also be normal if focal neurologic deficits are absent. MRI is favoured as it can directly show the thrombosed sinus or veins. Differential diagnosis includes arterial stroke, brain tumor, encephalitis or "benign intracranial hypertension", which should only be diagnosed after sinus venous thrombosis has been appropriately ruled out. Recently, full anticoagulation has been recommended as therapy.
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PMID:[Aseptic cerebral sinus thrombosis. 5 cases and a review]. 194 57


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