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

Myoclonic epilepsy with ragged-red fibers (MERRF) is one of the mitochondrial encephalomyopathies. This article presents a nine-year-old boy who had been noted to have psychomotor retardation since infancy, and had progressive myoclonic epilepsy since he was four. The myoclonic epileptic seizures were refractory to the conventional anticonvulsants. The brain MRI, echocardiography and brainstem auditory-evoked-potential showed negative findings, but electroencephalography showed episodic generalized spike wave complexes. Oral glucose lactate stimulation test revealed abnormal elevation of lactic acid, and muscle biopsy showed ragged-red fibers. Subsarcolemmal accumulations of mitochondria with abnormal cristae in the muscle cells were noted under electronmicroscopic study. The patient was administered coenzyme Q 90 mg per day orally, with dramatic improvement in myoclonic seizures. The patient is still being followed up as an outpatient.
 ...
PMID:[Myoclonic epilepsy with ragged-red fibers: report of one case]. 177 52

Computed tomography and magnetic resonance imaging enable the identification of neuronal migration disorders during life. Several specific syndromes have been identified and early diagnosis of previously unrecognized entities is now possible. We report 51 patients with imaging. Thirty-two had a single widespread cortical dysplastic lesion. Twenty-eight had focal corticectomies. From a pathological standpoint, these encompassed focal cortical dysplasia (14 cases) and forme fruste of tuberous sclerosis (10 cases). These two groups of patients were indistinguishable from the clinical and radiological standpoint. In only two was the MRI examination normal. In addition, there were 10 with bilateral perisylvian dysplasia, four with diffuse cortical dysplasia or the "double cortex" syndrome, three with hemimegalencephaly, one with megalencephaly, and one with nodular neuronal heterotopia. The electroclinical and imaging findings led to the development of specific surgical strategies for the alleviation of the intractable seizures in each of these radiologically-defined syndromes.
 ...
PMID:Neuronal migration disorders: a contribution of modern neuroimaging to the etiologic diagnosis of epilepsy. 177 74

A 15-year-old boy in whom seizures were precipitated by drinking is described. Ictal EEG showed biparietal slow-wave discharges of greater amplitude over the right parietal lobe. Cerebral MRI disclosed right parieto-occipital cortical dysplasia. The mechanism which may be responsible for the seizures is briefly discussed.
 ...
PMID:Eating seizures associated with focal cortical dysplasia. 178 59

The concurrence of gelastic (laughing) seizures, hypothalamic hamartoma and precocious puberty constitutes a well defined epileptic syndrome in children; moreover mental retardation, neuropsychological deterioration and behavioral disorders have been often observed in these patients. In two cases we studied by means of MRI the appearance and the site of the hamartoma (in the posterior part of the hypothalamus with extension toward the third ventricle). The EEG study was performed by means of repeated recordings, of Computed EEG Topography (CET) and of Ambulatory EEG (A-EEG): in both patients during interictal periods paroxysmal EEG discharges prevailing in temporal or fronto-temporal regions and slight abnormalities of the background activity in the same areas were detected. Laughing seizures were recorded in each patient particularly by means of A-EEG: in case 1 bursts of high-voltage activity ("theta" waves) followed by depression of the background rhythm and by irregular spike discharges located in left temporal region were observed; in patient 2 irregular generalised spike discharges followed by slow waves or by depression of the background activity were seen. The presence of local abnormalities in both patients can support the hypothesis that the cortex, especially of the temporal anterior lobe, is involved in the origin of the laughing seizures. The significance of the mechanisms of secondary generalization as regards the seriousness of the epilepsy and of the mental impairment in these patients is also suggested.
 ...
PMID:[Epilepsy with laughing seizures, hypothalamic hamartoma and precocious puberty. Contributions of MRI, computed EEG topography (CET) and ambulatory EEG (A-EEG)]. 179 7

A case of visual allesthesia is reported. A thirty-year-old right-handed man with a right temporo-occipital arteriovenous malformation underwent the surgery for extirpation of the lesion. Postoperatively he had left homonymous hemianopsia. Approximately 6 months after the surgery, he experienced the initial spell of generalized convulsion, followed by the episodes of visual allesthesia. He experienced illusory left hemonymous transpositions of objects viewed in the right homonymous field. The transposition occurred from normal to the defective visual field. The illusory image was palinoptic, persisting for up to several minutes after the real object was no longer in view. It was equal in shape with the original, and caused monocular diplopia. MRI showed a large area of postoperative changes. The lesion was located from the posterior half of the middle and inferior gyri of the right temporal lobe to the occipital and a part of the parietal cortex. And it extended into the right fusiform and lingual gyri. The right lateral geniculate body and the posterior part of thalamus were also involved. We speculated that this phenomenon may result from irritation of the affected brain and its surrounding areas, since the episode took place following the seizure.
 ...
PMID:[A case of visual allesthesia]. 179 15

We report the preliminary results of an ongoing study of multiple sclerosis (MS) in childhood. The investigations include an analysis of the clinical picture and course. Multiple sclerosis in early childhood may present atypically, with a symptomatology suggesting diffuse encephalomyelitis, meningeal reaction, brain oedema, seizures, impaired consciousness and in some cases take a lethal course. Imaging studies including MRI and MR-spectroscopy, CSF-analysis, electrophysiology (VEP, BAEP, SER), and virological and immunological investigations are performed. So far 15 children have been studied. Their age at the onset of the disease ranged from 3 to 15 years. Abnormal CSF-findings with pleocytosis and oligoclonal IgG bands were present in 11 and 10 out of 15 patients respectively. MRI revealed numerous white matter lesions in the brain stem and cerebral hemispheres. VEP, BAEP and SER's were abnormal in most children. Proton magnetic resonance spectra from plaques exhibited a 50-80% decrease in N-acetyl aspartate, which is a potential marker of vital neuronal tissue, a decrease of the creatine pool and an increase of choline-containing compounds. Lactate was not increased. Our observations of MS in early childhood cast doubt on some of the previous notions concerning a latency period of several years between the exposure to a still unknown agent and the manifestation of MS. In view of atypical features in the initial phase, it would seem desirable to record cases of encephalomyelitis of undetermined origin as potential cases of MS and to register the further course for verification or exclusion.
 ...
PMID:Multiple sclerosis in childhood: report of 15 cases. 833 16

A 74-year-old woman was admitted because of disturbed consciousness due to iatrogenic hyponatremia. At admission, her serum level of sodium was 88 mEq/l. The hyponatremia was carefully corrected with physiologic saline for three days at a rate of 0.75 mEq/h until the serum sodium concentration of 135 mEq/l was achieved. Her neurologic state gradually improved to respond to painful stimuli with her left hand during the first week of treatment, but further improvement was not noted after that. On the 16th hospital day, seizure developed on her face and left upper extremity. Although abnormal lesions were not detected by MRI of the brain at admission, those performed on the 15th hospital day revealed multiple uncommon lesions with Tl and Gd enhanced images. On Tl images areas of low signal intensity were found in the central pons and left putamen, which were more clearly demonstrated by Gd enhanced MRI images. These lesions were considered to be consistent with central pontine and extra-pontine myelinolysis (CPEM). In addition, a part of the right temporal cortex was enhanced clearly by Gd-DTPA, which was also thought to be an extra-pontine myelinolysis. These lesions were responsible for the development of neurological signs due to CPEM. To our knowledge, this is the first case in which a lesion in the cerebral cortex was revealed as an extra-pontine myelinolysis by Gd enhanced MRI images. Gd enhanced MRI is useful for detecting the extra-pontine myelinolysis as well as central pontine myelinolysis.
 ...
PMID:[A case of central pontine and extra-pontine myelinolysis demonstrated by magnetic resonance imaging]. 181 88

Cerebral venous angiomas (CVAs) are made up of veins with abnormal structure: thick walls, lumens dilated of irregular calibre that converge radially towards a wide draining vein. The arteries are normal. The veins are separated by a normal nervous tissue. The malformation is thought to develop as a compensatory venous drainage consecutive to the occlusion, or lack of development, of one or several transcerebral veins during the formation of the mature venous system. Together with arteriovenous angiomas, capillary telangiectasias and cavernous angiomas, CVAs belong to the vascular angiomatous malformations, also called hamartomas. The present study is based on 12 cases collected between 1984 and 1989, all explored by CT and angiography, and by MRI in 2 cases. The diagnosis therefore was neuroradiological, except in 1 case where it was obtained by neuropathological examination. The malformation was supratentorial in 10 cases and cerebellar in 2 cases. Most CVAs were discovered in patients whose symptoms could hardly be attributed to these malformations and consequently were termed asymptomatic (6 cases). Two cases were found in subjects with generalized epileptic seizures without clear-cut relationship with the angioma; 4 cases were revealed by haemorrhages: subarachnoidal haemorrhage in 2 cases and supratentorial intraparenchymatous haematoma in 1 case. These 3 cases had a spontaneously favourable outcome after a follow-up of several years. One patient with a cerebellar hematoma died postoperatively of edematous infarction of the cerebellum. One of these patients had two symmetrical CVAs, one in each cerebral hemisphere (multiple venous angiomas), and in another patient the CVA was probably associated with a cavernous angioma.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Cerebral venous angiomas. 12 personal cases and review of the literature]. 185 33

A 20-year-old woman had an attack of acute intermittent porphyria (AIP) with seizures and hallucinations. MRI revealed multiple lesions in both hemispheres. Both the cerebral clinical abnormalities and the MRI lesions resolved following treatment. These findings suggest that a vascular mechanism may underlie the pathogenesis of cerebral dysfunction in AIP.
 ...
PMID:MRI reveals multiple reversible cerebral lesions in an attack of acute intermittent porphyria. 805 73

Five of 182 recipients of allogeneic bone marrow transplants performed between 2/84 and 6/90 developed seizures while receiving cyclosporine and methylprednisolone to prevent acute graft-versus-host disease. All received a radiation-free regimen of busulfan and cyclophosphamide as preparative therapy. Two patients received HLA-mismatched allografts; and three patients received marrow from HLA-identical sibling donors. Two patients had received extensive intrathecal therapy prior to transplantation. All patients were receiving standard prophylactic doses of CsA and MP at the time of onset (median 31 days posttransplantation) of seizures. Three patients had mild-to-moderate hypertension and varying degrees of morphologic evidence of microangiopathic hemolytic anemia. None had unusually low magnesium levels. Cyclosporine levels were not in the toxic range. Cranial magnetic resonance imaging and computed tomography (CT) showed bilateral abnormalities primarily in the posterior temporal, occipital, and parietal lobes. These abnormalities were shown to be transient on sequential MRI exams in two patients. Seizures as well as radiologic abnormalities resolved on stopping CsA and did not recur in 2 patients who subsequently received CsA in lower doses. These findings confirm and expand previous observations of CsA-associated seizures and demonstrate that they occur in allogeneic bone marrow transplant recipients following a radiation-free preparative regimen of busulfan and cyclophosphamide.
 ...
PMID:Cyclosporine-associated seizures in bone marrow transplant recipients given busulfan and cyclophosphamide preparative therapy. 187 5


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>