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)

A 57 year old woman with post-traumatic complex partial seizures was admitted because of recurrent episodes of altered mental state over the preceding 4 years, each lasting up to 5 days. There was a history of dietary protein intolerance since childhood and two of her daughters had died in the neonatal period from unexplained encephalopathies. In hospital she developed fluctuating confusion, amnesia, and sudden episodes of unresponsiveness. An EEG was consistent with complex partial status epilepticus but there was no response to benzodiazepines. Nasogastric feeding and sodium valproate were given and shortly afterwards she lapsed into a deep coma. Blood ammonia and urinary orotate were raised, and genetic testing confirmed that she was a carrier of a mutation in exon 3 of the ornithine transcarbamylase gene (C to T at position 92). Treatment with protein restriction, carnitine, and sodium phenylbutyrate led to a full recovery over a period of 3 months. To our knowledge this is the oldest age of onset yet described in a manifesting carrier. She is the fifth patient with heterozygous ornithine transcarbamylase deficiency reported to have had a severe reaction to sodium valproate. Hyperammonaemic encephalopathy should be considered in patients of any age who experience fluctuating confusion.
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PMID:Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. 1108 Feb 38

We herein report a rare case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and diabetes mellitus with ketoacidosis. An 18-year-old female patient was diagnosed to have diabetes mellitus and insulin therapy was thereafter initiated. At 26 years of age, she was hospitalized for diabetic ketoacidosis, soon followed by a loss of consciousness, left-sided dysmetria, and ataxic speech. MELAS was diagnosed because of the presence of ragged red fibers in a muscle biopsy. At 33 years of age, she was admitted to our hospital because of ketoacidosis and partial status epilepticus. A blood gas examination revealed as follows; arterial pH, 6.88; bicarbonate, 2.1 mmol/l; base excess - 29.8 mmol/l. The serum level of glucose had also increased to 30 mmol/l. The serum levels of lactate and B-hydroxybutyrate were elevated to 11.4 mmol/l and 1,990 micromol/l, respectively. Ketoacidosis improved by fluid replacement and continuous intravenous insulin infusion. A brain MRI demonstrated hyperintensity areas on FLAIR images in the bilateral temporal lobes and the cerebellum. A proton MRS demonstrated the abnormal lactate accumulation in the bilateral temporal and occipital lobes. Since epileptic seizures are rare in patients with diabetic ketoacidosis, such seizures may indicate the existence of MELAS syndrome.
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PMID:Ketoacidosis accompanied by epileptic seizures in a patient with diabetes mellitus and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 1111 21

Several epileptic syndromes that occur during childhood are characterized by severe treatment-resistant seizures, progressive loss of higher intellectual functions, and characteristic electroencephalographic abnormalities. These catastrophic epileptic syndromes include epileptic encephalopathy with diffuse slow spike waves (Lennox-Gastaut syndrome), West syndrome, progressive myoclonic epilepsies, and electrical status epilepticus during sleep. This article summarizes each syndrome and reviews the most recent information concerning the effectiveness of topiramate with respect to each condition. Suggestions are offered to help clinicians maximize topiramate's efficacy and tolerability in patients suffering with these syndromes. Overall, topiramate is a valuable antiepileptic medication in the treatment of catastrophic pediatric epileptic syndromes.
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PMID:Topiramate in the catastrophic epilepsies of childhood. 1121 52

We report the clinical and MR manifestations of an 18 year-old girl with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Recurrent status epilepticus caused reversible cytotoxic edema on diffusion-weighted images (DWI). Initial and one month follow-up MR spectroscopy, after seizure control, showed some discrepancies in the ratio of metabolites. N-acetylaspartate (NAA) partially recovered (NAA/creatine (Cr) ratio: 1.27-->1.84). This was because of a normalization of decreased NAA due to cellular dysfunction as a result of status epilepticus. A low ratio of NAA/Cr due to abnormal mitochondria remained in the decreased state. Reversible NAA/Cr ratios in the acute lesion suggested that NAA reflects the neuronal function as well as the level of neuronal structural damage. The altered NAA/Cr ratio better correlated with the abnormal signal intensity area of T2-weighted images (T2WI) and DWI than the lactate (Lac)/Cr ratio. With conservative treatment with anti-epileptics not accompanied by coenzyme Q or sodium dichloroacetate, lactate persistently increased (Lac/Cr ratio: 1.01-->1.21) because of the continued production of lactate in cells with respiratory deficiency, which is the main pathology of MELAS.
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PMID:Diffusion-weighted image and MR spectroscopic analysis of a case of MELAS with repeated attacks. 1129 91

Policies of administration and availability of EEG offered during nonbusiness hours vary widely among EEG laboratories. The authors surveyed medical directors of accredited EEG laboratories (n = 84) to determine the ranges of availability and clinical indications for approval of continuously available emergent EEG (E-EEG). Of 46 respondents, 37 (80%) offered E-EEG. Two centers recently lost funding for E-EEG. Availability was not associated with the total number of EEGs performed annually. The mean estimated response time from request to expert interpretation was 3 +/- 4 hours (range, 1-24 hours). The five clinical indications for which most respondents approved E-EEGs were possible nonconvulsive status epilepticus (100%), treatment of status epilepticus (84%), cerebral death exam (81%), diagnosis of convulsive status epilepticus (79%), and diagnosis of coma or encephalopathy (70%). Respondents disagreed widely when asked which clinical situations merited E-EEG, with some approving all requests and others denying all except for nonconvulsive status epilepticus. The wide range of current practice suggests that research focused on outcomes of aggressive, EEG-aided patient evaluation and treatment are needed to define better the costs and benefits of a continuously available EEG service.
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PMID:Current practice in administration and clinical criteria of emergent EEG. 1143 7

We present a clinico-pathological case report in which both cortical dysplasia and epilepsy coexisted: a 30 year old male who was dead on arrival at hospital. One and a half hours earlier he had developed complex partial status with peri-oral cyanosis. At post mortem examination his brain showed bilateral occipital frontal polymicrogyria with unlayered neuronal migration disorder; in other parts there were fourth layer migration disorders. The white matter exhibited multicystic encephalopathy. In the heart there was chronic interstitial and perivascular fibrosis, although he died of a cardiac arrest. Bilateral frontal-occipital polymicrogyria is highly epileptogenic. This was a sporadic case and we cannot define a clear aetiology. There was a pathological cardiac condition without previous vascular risk factors which might be related to repetition of seizures and possibly to his sudden death during status epilepticus.
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PMID:Bilateral fronto-occipital polymicrogyria and epilepsy. 1146 27

This report describes nonconvulsive status epilepticus (NCSE) in four patients with end-stage renal disease (ESRD) on peritoneal dialysis therapy. All patients presented with acute confusion or stuporous state without clinical motor seizures. Three patients had active systemic infections and were being administered antibiotics. Diagnoses were confirmed in all cases by electroencephalogram (EEG), which showed characteristic diffuse sharp waves and spikes. The EEG appearance improved after anticonvulsant therapy. All patients had satisfactory control of their electrical seizure activity and made varying degrees of mental recovery. To our knowledge, this is the first reported series of NCSE in patients with ESRD on peritoneal dialysis therapy. It shows NCSE as a differential diagnosis for acute confusion. We emphasize the need for nephrologists to consider NCSE as a differential diagnosis for uremic encephalopathy.
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PMID:Nonconvulsive status epilepticus in peritoneal dialysis patients. 1184 Mar 92

X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex. The childhood form of the disease is typically heralded by subtle neurocognitive changes which later progress. Acute presentation of childhood ALD has been reported, but the incidence is not known. We reviewed the records of 485 boys with childhood ALD, determined those with acute presentation, and classified them as adrenal crisis, seizures, or encephalopathy. Of the 485 reviewed cases, 45 (9.3%) presented acutely at an average age of 5.5 years. Twenty of 45 (44%) presented with seizures, focal seizures in 6 boys and generalized in the remainder with 4 having status epilepticus. Twenty out of 45 presented with acute adrenal crisis. Five of 45 presented with acute encephalopathy or coma. The diagnosis of ALD was rarely made in the acute period, but was often suggested by neuroimaging. The accurate, rapid diagnosis of ALD has important implications for treatment as well as for other family members and should be considered in appropriate patients.
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PMID:Acute presentation of childhood adrenoleukodystrophy. 1150 47

Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20-month-old Italian female and a 4-year-old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.
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PMID:Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis. 1150 22

Epileptic encephalopathies are conditions in which neurologic deterioration results mainly from epileptic activity. It can be due to very frequent or severe seizures, or to subcontinuous paroxysmal interictal activity. The former consists mainly of severe myoclonic epilepsy in infancy (SMEN), in which patients exhibit seizures from the middle of the first year of life with repeated episodes of status epilepticus, and migrating partial epilepsy in infancy, in which, from the first trimester of life, partial seizures affect various areas of the cortex randomly and in a subcontinuous fashion. Cases with subcontinuous paroxysmal interictal activity affect newborns with suppression bursts, thus consisting of either Ohtahara syndrome or neonatal myoclonic encephalopathy, and infants with infantile spasms (IS), although rare cases do not start until age 4 years. In childhood, it consists of various types of generalized seizures combined with either slow spike-waves of the Lennox-Gastaut syndrome (LGS) or with myoclonus and 3-Hz spike-waves of myoclonic-astatic epilepsy, and continuous spike-waves in slow sleep (CSWS) combined with various neuropsychological patterns including Landau-Kleffner syndrome, frontal lobe syndrome, orofacial dyspraxia, or negative myoclonus. Management differs for all these syndromes, with the combination of clobazam (CLB) and stiripentol (STP) being promising for SMEN, vigabatrin (VGB) for IS, lamotrigine (LTG) for LGS, and steroids for CSWS. It is important to avoid potential drug-induced worsening by phenobarbital (PB), phenytoin (PHT), carbamazepine (CBZ), tiagabine (TGB), and VGB; in children and especially in infants, treatment with valproate is preferred each time the proper diagnosis is not reached.
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PMID:Epileptic encephalopathy. 1152 Mar 18


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