Cases reported "Epilepsy"

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1/1289. Schinzel-Giedion syndrome: evidence for a neurodegenerative process.

    We report on a case of Schinzel-Giedion syndrome in which serial magnetic resonance (MR) brain-imaging studies demonstrated a progressive neurodegenerative process. These findings in addition to "coarse" facial appearance and skeletal abnormality suggest that a progressive metabolic defect underlies this syndrome. However, results of detailed investigations for metabolic disorder were all normal.
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ranking = 1
keywords = mal
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2/1289. Characterization of nodular neuronal heterotopia in children.

    Neuronal heterotopia are seen in various pathologies and are associated with intractable epilepsy. We examined brain tissue from four children with subcortical or periventricular nodular heterotopia of different aetiologies: one with severe epilepsy following focal brain trauma at 17 weeks gestation, one with hemimegalencephaly and intractable epilepsy, one with focal cortical dysplasia and intractable epilepsy, and one dysmorphic term infant with associated hydrocephalus and polymicrogyria. The connectivity of nodules was investigated using histological and carbocyanine dye (DiI) tracing techniques. DiI crystal placement adjacent to heterotopic nodules revealed numerous DiI-labelled fibres within a 2-3 mm radius of the crystals. Although we observed labelled fibres closely surrounding nodules, the majority did not penetrate them. Placement of DiI crystals within nodules also identified a limited number of projections out of the nodules and in one case there was evidence for connectivity between adjacent nodules. The cellular and neurochemical composition of nodules was also examined using immunohistochemistry for calretinin and neuropeptide y (NPY), which are normally expressed in GABAergic cortical interneurons. Within heterotopic nodules from all cases, numerous calretinin-positive neurons were identified, along with a few cell bodies and many processes positive for NPY. Calretinin-positive neurons within nodules were less morphologically complex than those in the cortex, which may reflect incomplete differentiation into an inhibitory neuronal phenotype. There were also abnormal clusters of calretinin-positive cells in the overlying cortical plate, indicating that the migratory defect which produces heterotopic nodules also affects development of the cortex itself. Thus, heterotopic nodules consisting of multiple neuronal cell types are associated with malformation in the overlying cortical plate, and have limited connectivity with other brain regions. This abnormal development of connectivity may affect neuronal maturation and consequently the balance of excitation and inhibition in neuronal circuits, leading to their epileptogenic potential.
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ranking = 2.0322883550315
keywords = mal, complex
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3/1289. Lamotrigine associated with insomnia.

    PURPOSE: To review the incidence of lamotrigine (LTG)-associated insomnia in an adult tertiary care epilepsy outpatient clinic. methods: The records of all patients who had received LTG were reviewed to identify patients who had experienced insomnia after introduction of this drug. patients were included if they had experienced a sleep disturbance of sufficient severity to require a discontinuation of LTG or a dose reduction. RESULTS: Among 109 patients exposed to LTG, seven (6.4%) had a sleep disturbance of a severity to required a change in therapy. The descriptions of the sleep disturbance were similar among the patients, and the LTG-induced insomnia appeared to be dose dependent. Unlike the few previous descriptions of LTG-induced insomnia in the literature, no factors predisposing to this adverse effect were identified. CONCLUSIONS: The results of this retrospective review suggest an association between LTG and intolerable insomnia in a small proportion of patients. physicians should inquire about sleep disturbances in patients treated with LTG.
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ranking = 0.5
keywords = mal
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4/1289. Possibilities of non-pharmacological conservative treatment of epilepsy.

    This study set out to assess the effect of non-pharmacological conservative (NPC) interventions as alternatives to antiepileptic pharmacotherapy. A prospective follow-up cohort study was conducted in an outpatient seizure clinic of a referral center for epilepsy. Twenty-five patients (nine males, 16 females) aged 16-45, with at least two well-described epileptic seizures, were included who had rejected antiepileptic pharmacotherapy. Twelve had idiopathic generalized epilepsy, 11 had symptomatic or cryptogenic localization-related epilepsy, and two had epilepsy with generalized and focal signs. Twenty-three of the patients were followed for more than 2 years. The patients were treated with arrest after focal seizure onset (2 cases), sensory protection against reflex seizures (3 cases), avoidance of non-specific seizure-precipitating factors ('life hygiene', 16 cases), and/or miscellaneous interventions (8 cases). The main outcome measures were complete seizure control (more than 2 years) or sufficient improvement to continue with NPC treatment alone. Eight of the 23 patients were completely seizure free for more than 4 years, and three were sufficiently improved to continue NPC treatment without drugs. Trends were observed for patients with idiopathic generalized epilepsies with less than seven convulsive seizures, and with only one seizure type to respond better to NPC treatment. The duration of epilepsy, and the finding of generalized epileptiform discharge in the EEG had no influence on the outcome. Rational NPC treatments which are aimed at specific factors in the precipitation and development of epileptic seizures can be useful therapeutic alternatives for patients with milder forms of epilepsy. Apart from photosensitive patients, those most likely to profit are patients with idiopathic generalized epilepsy, a maximum of six generalized tonic-clonic seizures which were precipitated by lack of sleep or excessive alcohol intake, and with no or rare concomitant absences. In such cases, NPC treatment may be as effective as pharmacotherapy and gives the patient a positive experience of regained self-control.
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ranking = 1
keywords = mal
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5/1289. Psychoneuroendocrine aspects of temporolimbic epilepsy. Part III: case reports.

    Many reproductive steroids have neuroactive effects that can modulate neuronal excitability and influence emotions. Emotional disorders may result when 1) abnormal endocrine states interact with normal brain, 2) normal endocrine states interact with abnormal brain, and 3) abnormal endocrine states interact with abnormal brain. An understanding of these pathogenetic relationships and the potential therapeutic role of reproductive hormones should lead to a more effective and comprehensive management of women and men with anxiety and mood disorders.
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ranking = 3
keywords = mal
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6/1289. lipoma of the corpus callosum.

    lipoma of the corpus callosum is a rare congenital condition, often asymptomatic, but which may present as epilepsy, hemiplegia, dementia, or headaches. This paper reviews the condition and reports the only two cases which are known to the Hospital for Sick Children, Great Ormond Street, london. The second case demonstrated the value of computerised axial tomography (EMI scan) in making the diagnosis and showing associated anomalies.
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ranking = 0.5
keywords = mal
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7/1289. epilepsy in the vibroacoustic disease: a case report.

    INTRODUCTION: Late-onset epilepsy was one of the first neurological problems identified in patients diagnosed with vibroacoustic disease. Other clinical situations, such as automatisms and rage-like reaction crises were also observed. Some cases of epileptic seizures were triggered by different types of stimuli. CASE REPORT: This study describes the clinical case of a 30-yr-old male metal-worker who had epileptic seizures when he used vibratory tools common to his profession, such as drills and sanders. We performed a 21-channel EEG during a seizure induced in the laboratory by direct contact of a vibratory tool with his right hand. This allowed us to view the electrical discharge of his left hemisphere. The entire procedure was simultaneously videotaped while a partial motor crisis was observed. brain MRI of this subject revealed multiple hyperintense focal lesions in the sub-cortical white matter. echocardiography revealed thickening of the pericardium and valve structures. COMMENTARY: To the authors' knowledge, this is the first documented case of reflex epilepsy due to vibratory stimuli. We briefly discuss the possible pathophysiological mechanisms of this clinical event.
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ranking = 0.5
keywords = mal
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8/1289. Atypical herpes simplex encephalitis presenting as operculum syndrome.

    This case report demonstrates the course of herpes simplex virus cerebritis in a patient aged 7 years 2 months who presented with non-specific symptoms followed by an epileptic attack. Subcortical, bilateral opercular and bilateral thalamic lesions were detected, but the temporal and inferior frontal lobes were spared. The patient developed anarthria, impairment of mastication and swallowing consistent with operculum syndrome. diagnosis was made by magnetic resonance imaging and elevation of oligoclonal antibodies specific to herpes simplex virus in cerebrospinal fluid after an unexpectedly negative polymerase chain reaction test.
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ranking = 0.015176165825265
keywords = simple
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9/1289. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.

    BACKGROUND: tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND methods: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.
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ranking = 0.12915342012618
keywords = complex
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10/1289. Valproate-induced biochemical abnormalities in pregnancy corrected by vitamins: a case report.

    PURPOSE: Valproate (VPA) is a teratogenic anticonvulsant (AED), but vitamin supplementation has been suggested to limit the effect of VPA on the fetus. Maternal urinary metabolites were monitored to assess the metabolic effects of VPA before and after vitamin supplementation. methods: A pregnant woman with epilepsy receiving VPA and ethosuximide (ESM) was given high-dose multivitamins from 13 to 28 weeks' gestation. Maternal urinary metabolites were measured throughout the pregnancy by gas chromatography/mass spectrometry. RESULTS: Before multivitamin supplementation began, the patient had significantly increased excretion rates of alpha-ketoglutarate, beta-lactate, pyruvate, lactate, methylmalonate, and other metabolites compared with normal pregnant women. During multivitamin supplementation, many previously increased excretion rates decreased significantly. Fetal head growth was normal up to 30 weeks, but then lagged. Bitemporal narrowing was noted at birth. CONCLUSIONS: VPA may cause metabolic abnormalities in pregnancy. Many biochemical abnormalities attributable to VPA in this patient were corrected with high-dose multivitamin supplementation. The specific relation between biochemical abnormalities and VPA teratogenesis remains to be determined.
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ranking = 5
keywords = mal
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