Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Creutzfeldt-Jakob disease (CJD) is a presenile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few autoctonous cases have been described in Brazil. A 54-year-old white woman, was admitted in our service with a month history of progressive, bilateral cortical blindness. After admission, she developed right partial motor seizures( right facial, upper and lower limbs), she became progressively aphasic( mixed aphasia). Seizures were controlled with phenytoin, but she developed choreoathetotic movements on her right dimidium, with partial control after introduction of chlorpromazine 25 mg q/d. She could no longer stand up or walk due to severe ataxia. The first EEG (October, 2001) showed left hemisphere severe seizure activity (status epilepticus partialis). She was delivered home with enteral nutrition, phenytoin, chlorpromazine and mepacrine 100 mg qd. The following laboratorial tests were negative or normal: blood series, platelets, ESR, kidney and liver function, copper, ceruloplasmin, VDRL, HIV, HTLV-1, lactate, and cerebral DSA (performed in other service).A spinal tap with normal opening pressure was perform and CSF examination was normal. CSF 14-3-3 protein was positive, CSF specific neuronal enolase 7.5 ng/ml(normal). Genetic study of PRNP gene did not disclosed any known mutation. A MRI (October, 2001) showed areas of hyperintense signal (T2 and FLAIR) without Gd-enhancement on T1, in the left temporal lobe and in both occipital lobes; basal ganglia have a normal appearance. DWI imaging showed bright areas at the same sites. An EEG (March, 2002) disclosed a periodical sharp triphasic waves pattern, suggestive of CJD. A second MRI (April, 2002) showed mild generalized atrophy, no ventricular dilatation, and the hyperintense sites disappeared. She remained clinically stable and under use of chlorpromazine and mepacrine until she died due to pulmonary complications on April, 2003.
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PMID:[Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings]. 1523 44

We present a case of an inherited disorder of copper metabolism, Menkes disease in which MRI studies revealed the coexistence of T2 hypersignal in the temporal white matter with an increase of apparent diffusion coefficient indicative of vasogenic oedema combined with T2 hypersignal of the putamen and head of the caudate and decreased apparent diffusion coefficient indicative of cytotoxic oedema. These unusual MRI features emphasize the interest of newly developed techniques in early diagnosis in Menkes disease. The acute cerebral damage might result from the combined effects of acute metabolic stress due to infectious disease and prolonged status epilepticus, acting on a highly susceptible developing brain. Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure.
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PMID:Unusual magnetic resonance imaging features in Menkes disease. 1824 19

Although seizures are rarely encountered in Wilson's disease (WD), seizures related to hypocupremia have not been reported before. We report a patient presenting with partial status epilepticus who was on strict low-copper diet and chelating therapy for WD. Despite other rare causes of seizures in WD including penicillamine-induced pyridoxine deficiency, cerebral copper deposition and metabolic encephalopathy, the most probable cause of resistant status epilepticus in this patient was found as hypocupremia from overzealous treatment. This case exemplifies that hypocupremic states should be kept in mind as a risk factor for resistant seizures.
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PMID:Partial status epilepticus induced by hypocupremia in a patient with Wilson's disease. 2073 22

Phenytoin is indicated for tonic clonic seizures and status epilepticus. Phenytoin is known to deplete vital nutrients such as calcium, folic acid, vitamin D, vitamin K, biotin, carnitine, copper, selenium and zinc. Depletion of nutrients is known to cause adverse effects such as ataxia, nystagmus, lethargy, slurred speech and hematological disturbances. Spirulina is a rich source of vital nutrients including iron. It is proposed to study the effect of spirulina on the hematological disturbances induced by phenytoin. Seven groups of male albino rats weighing 130-150g were used. Each group consisted of six animals. Phenytoin at a dose of 20mg/kg/day dissolved in water, spirulina 50, 100, 200 mg/kg/day suspended in 1% tween 80 alone or in combination with phenytoin was administered for 30 days. Hemoglobin content, total leucocyte and erythrocyte count were determined on 30(th) day. Phenytoin significantly decreased the hemoglobin content, total erythrocyte and leukocyte count. Spirulina did not show any effect at the lower dose of 50 and 100mg/kg and higher dose of 200mg/ kg significantly elevated hemoglobin content. Spirulina at a dose of 200mg/kg/day in combination with phenytoin reversed the phenytoin induced decrease in hemoglobin content, total erythrocyte and leukocyte count. The results of this study indicates that supplementation of phenytoin with spirulina may reverse the hematological disturbances induced by phenytoin.
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PMID:Influence of spirulina on the phenytoin induced haematological changes. 2255 35

Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. Most patients develop seizures from 2 to 3 months of age, accompanied by a neurodevelopmental regression. The history of epilepsy is usually characterized by 3 stages: an early stage with focal clonic seizures and status epilepticus, an intermediate stage with infantile spasms, and a late stage with multifocal, myoclonic, and tonic seizures. At the onset, epilepsy can be controlled with anticonvulsant therapy, whereas with the progression of disease, it becomes extremely resistant to all antiepileptic drugs. In this article, we analyze clinical and electroencephalographic (EEG) characteristics of epilepsy in patients with this syndrome.
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PMID:Epilepsy in children with Menkes disease: a systematic review of literature. 2503 23