Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Computerized transaxial tomography was carried out on 50 consecutive unselected patients referred to a neurologic practice for evaluation of focal epilepsy. Structural abnormalities were defined in 35.3 percent of these studies: porencephalic cysts in six patients, diffuse cerebral atrophy in five, cerebral hemiatrophy in three, focal cortical atrophy in two, neoplasms in two, hydrocephalus in one patient, and cerebeller hypoplasia in one. Computerized transaxial tomography is a useful outpatient procedure for evaluation and follow-up of patients with focal seizure disorders.
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PMID:Computerized transaxial tomography in the evaluation of patients with focal epilepsy. 81 Jul 37

The neurocutaneous melanosis (NCM) is a rare, neuroectodermal dysplasia defined by the association of giant or multiple, nonmalignant pigmented cutaneous nevi with leptomeningeal melanosis or melanoma. As a rule, the cerebral pathological substratum is characterized by a melanocytic infiltration of the leptomeninges, often leading to hydrocephalus. The most frequent clinical symptomatology starts early in life, with convulsive seizures, psychomotor delay, intracranial hyperpression: the prognosis is severe. Malignant melanomas can also occur. One 21 years-old patient affected by NCM with a giant bathing nevus and epilepsy is reported. Her psychomotor development was slightly delayed. Academic progress was disturbed by the frequency of seizures and the multiple dermatological surgeries, and she remained at the elementary school level. Her epilepsy appeared at seven years and became pharmacoresistant. It was a focal, left temporal epilepsy. Neuroimaging investigations were performed repeatedly, and demonstrated the progressive appearance of parenchymal lesions with T1 and T2 shortening, without contrast enhancement, at the pons (11 years), the two hippocampi (14 years), and of an atrophy of the cerebellum and the brainstem (19 years). No hydrocephalus, tumoral aspect, or meningeal involvement were demonstrated. This patient's case is peculiar because her neurological symptomatology consists only of focal epilepsy, unrelated to a tumor, with moderate cognitive impairment despite a rather long course of the disease. Her evolution raises the question of condidency to surgical treatment.
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PMID:An unusual case of neurocutaneous melanosis. 1574 Nov 43

In the industrialized nations headache prevalence is increasing in children and adolescents. The nosologic classification determines the therapeutic strategy to follow. Three case reports illustrate the optimal cooperation of both a pediatric outpatient pain clinic and a pediatric psychosomatic pain clinic. We report on (1) a girl aged 2 years and 7 months with a 4-month history of headache episodes lasting about 15 min each with concomitant symptoms; (2) an 11-year-old boy with Schimmelpenning-Feuerstein-Mims syndrome, symptomatic focal epilepsy, psychomotor retardation, mild postinfectious internal hydrocephalus, and repeated heat-triggered episodes of right-sided headache beginning suddenly with a duration of 5-30 min and concomitant flush of his hemiface; and (3) a 12-year-old boy who for about 2 years has suffered from "migraine" 3 times a week, significantly impairing his quality of life. We discuss the patients' courses, diagnostic pitfalls, and therapeutic options. For the optimal treatment of children with headache not easily fitting into one of the categories, with significant comorbidity present, or if there is no adequate response to therapy conforming with guidelines, the help of an interdisciplinary pediatric pain clinic is invaluable.
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PMID:[Unique children -- unique headaches. Case reports of pediatric headache patients from an outpatient children's pain department]. 1641 1

Although responsive neurostimulation (RNS) is approved for treatment of resistant focal epilepsy in adults, little is known about response to treatment of specific cortical targets. We describe the experience of RNS targeting the insular lobe. We identified patients who had RNS implantation with at least one electrode within the insula between April 2014 and October 2015. We performed a retrospective review of preoperative clinical features, imaging, electrocardiogram (EEG), intraoperative electrocorticography (ECoG), and postoperative seizure outcome. Eight patients with at least 6 months of postimplant follow-up were identified. Ictal localization was inconclusive with MRI or scalp EEG findings. Intracranial EEG monitoring or intraoperative ECoG demonstrated clear ictal onsets and/or frequent interictal discharges in the insula. Four patients demonstrated overall 50-75% reduction in seizure frequency. Two patients did not show appreciable seizure improvement. One patient has experienced a 75% reduction of seizure frequency, and another is nearly seizure free postoperatively. There were no reported direct complications of insular RNS electrode placement or stimulation, though two patients had postoperative complications thought to be related to craniotomy (hydrocephalus and late infection). Our study suggests that insular RNS electrode placement in selected patients is relatively safe and that RNS treatment may benefit selected patients with insular epilepsy.
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PMID:Application of RNS in refractory epilepsy: Targeting insula. 2958 64