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

Paraneoplastic limbic encephalitis (PLE) is a disorder characterized by severe cognitive dysfunction and seizures. It is usually associated with small cell lung carcinoma. Diagnosis is difficult because clinical markers are often lacking, and symptoms usually precede the diagnosis of cancer. Serological detection of antineuronal antibodies can be useful. We describe a patient with symptoms of limbic encephalitis, negative for paraneoplastic antibodies, in whom lung cancer was detected.
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PMID:[Paraneoplastic limbic encephalitis and lung cancer]. 1504 93

We report two cases of paraneoplastic limbic encephalitis (PLE) that differed in their clinical patterns, the underlying tumours, and the associated paraneoplastic antibodies. The first patient was a young adult male, with anti-MA-2 antibodies and testicular tumour. The clinical picture was restricted to limbic involvement. The second patient was a 56-year old, female heavy smoker; with seizures and depression, but also vertigo and diplopia. A low level of serum anti-Hu antibodies led to the detection of a small cell lung carcinoma by total body PET-scanning. In both cases, intrathecal synthesis of CSF oligoclonal IgG bands and of the corresponding paraneoplastic antibodies was demonstrated.
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PMID:Paraneoplastic limbic encephalitis: diagnostic relevance of CSF analysis and total body PET scanning. 1550 68

Tuberous sclerosis complex (TSC) is an autosomal dominant tumor syndrome that affects approximately 1 in 6000 individuals. It is characterized by the development of tumors, named hamartomas, in the kidneys, heart, skin and brain. The latter often cause seizures, mental retardation, and a variety of developmental disorders, including autism. This disease is caused by mutations within the tumor suppressor gene TSC1 on chromosome 9q34 encoding hamartin or within TSC2 on chromosome 16p13.3 encoding tuberin. TSC patients carry a mutant TSC1 or TSC2 gene in each of their somatic cells, and loss of heterozygosity has been documented in a wide variety of TSC tumors. Recent data suggest that functional inactivation of TSC proteins might also be involved in the development of other diseases not associated with TSC, such as sporadic bladder cancer, breast cancer, ovarian carcinoma, gall bladder carcinoma, non-small-cell carcinoma of the lung, and Alzheimer's disease. Tuberin and hamartin form a heterodimer, suggesting they might affect the same processes. Tuberin is assumed to be the functional component of the complex and has been implicated in the regulation of different cellular functions. The TSC proteins regulate cell size control due to their involvement in the insulin signalling pathway. Furthermore, they are potent positive regulators of the cyclin-dependent kinase inhibitor p27, a major regulator of the mammalian cell cycle. Here we review the current knowledge on how mutations within the TSC genes could trigger deregulation of stability and localization of the tumor suppressor p27.
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PMID:The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27. 1671 32

A few series in the literature were published before 1987 on syndrome of inappropriate antidiuretic hormone secretion (SIADH) in small cell lung cancer (SCLC). This study examines the outcome in more recent era. From 1981-1998, there were 1417 new cases of SCLC diagnosed in the provincial registry, of which 244 were of limited stage (LS). A chart review and statistical analyses were performed using Mann-Whitney test, chi-square test and Kaplan-Meier method. Fourteen LS patients (group A) had SIADH at presentation. Group B consisted of 230 LS patients without SIADH. There were more patients with poorer performance status (ECOG 2-4) in group A than B (28.6% versus 7.8%, P=0.03). Otherwise, sex, age at diagnosis, nodal spread, pleural effusion, bronchial obstruction, superior vena cava obstruction, performance status, weight loss, and lactic dehydrogenase at presentation, were comparable between the two groups. Treatments given, e.g., extent of surgical resection (if performed, whether complete/incomplete), total number of chemotherapy cycles, radiotherapy doses, were comparable (P>0.05). The response to chemo-radiation was not significantly different (P=0.7). Five-year overall survival (8% versus 19%, P=0.08), and cause-specific survival (16% versus 20%, P=0.13) showed that group A patients had a worse outcome, though of borderline significance. Symptoms related to SIADH included: weakness, 4 patients; tiredness, 3; change in level of consciousness, 1; seizure, 1. The range of lowest sodium level was 110-129. Two patients also had paraneoplastic myopathy. SIADH resolved in 12 patients at 1.6-44.7 weeks (median: 4.3). Among the 14 patients who initially presented with SIADH and recurred later, 10 had recurrence of SIADH at the time of tumor recurrence. Serum sodium was useful for post-treatment surveillance in SCLC patients who presented with SIADH, with 71% (10/14) developing SIADH again at the time of recurrence. SIADH is a poor prognostic factor for LS SCLC.
Lung Cancer 2006 Aug
PMID:Syndrome of inappropriate antidiuretic hormone secretion (SIADH) in patients with limited stage small cell lung cancer. 1678 84

Reversible posterior leukoencephalopathy (RPLE) is a unique clinicoradiological entity characterized by diverse neurological symptoms with bilateral posterior cerebral white matter edema. It is frequently associated with seizures but rarely with status epilepticus. Periodic lateralized epileptiform discharges (PLEDs) as an initial electrographic pattern in a patient with RPLE have never been reported. We discuss a 47-year-old woman with a newly diagnosed non-small cell carcinoma of the lung on etoposide who was admitted with encephalopathy. Initial EEG demonstrated PLEDs. She later developed nonconvulsive status epilepticus. Magnetic resonance imaging (MRI) revealed bilateral subcortical edema predominantly of the temporo-occipital lobes. Discontinuation of etoposide resulted in full clinical, electrical recovery within 10 days and significant radiological improvement within 15 days. Our case indicates the importance of identifying and addressing any modifiable etiologic factors of RPLE. We emphasize identification of the unique initial electrographic pattern of PLEDs, which may be a predisposing factor to status epilepticus or an indication of structural damage.
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PMID:Periodic lateralized epileptiform discharges: an initial electrographic pattern in reversible posterior leukoencephalopathy syndrome. 1836 64

The authors report a case of status epilepticus secondary to limbic encephalitis that was successfully treated with temporal lobectomy. A 45-year-old woman presented in status epilepticus refractory to high-dose suppressive medical therapy. Magnetic resonance imaging of the brain showed T2- and FLAIR-weighted hyperintensities in the right temporal lobe, left and right frontal lobes, and pons. A lumbar puncture revealed normal findings. Continuous electroencephalography monitoring showed continued right temporal seizure activity. A paraneoplastic panel was positive for N-type voltage-gated calcium channels. Subsequent bronchial biopsy revealed small cell carcinoma of the lung. A right temporal lobectomy was performed due to refractory status, resulting in resolution of seizure activity and recovery of good neurological function. The authors describe their case and review the literature on surgical therapy for refractory status epilepticus and limbic encephalitis.
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PMID:Temporal lobectomy for refractory status epilepticus in a case of limbic encephalitis. 1882 64

We report a case of paraneoplastic limbic encephalitis (PLE) in an elderly lady with small-cell lung carcinoma (SCLC) and positive anti-RI neuronal auto-antibody. PLE is a relatively rare clinical entity associated with cancer patients, but is probably under-diagnosed. PLE typically presents clinically with affective changes in personality, cognitive dysfunction and seizures in a patient with malignancy, particularly SCLC. Although diagnosis does not rely upon definitive investigation results, serum paraneoplastic antibodies, abnormal CSF, and characteristic MRI and EEG findings may support the diagnosis. As PLE often presents prior to the discovery of a primary tumour, knowledge of the disease may assist in identifying underlying malignancy.
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PMID:Paraneoplastic limbic encephalitis in an elderly patient with small cell lung carcinoma. 2084 28

Paraneoplastic limbic encephalitis (PLE) associated with small cell lung cancer (SCLC) often presents with antibodies to intracellular antigens and a poor outcome even after tumor resection and immunotherapy. We report a PLE patient presenting with generalized seizures, shortterm memory impairment and medial temporal lobe hyperintensity in MRI. Initial screening revealed significantly elevated thyroid antibody levels suggesting Hashimoto's encephalopathy. Following methylprednisolone treatment, her seizures ceased, MRI findings disappeared and memory impairment showed a partial resolution in 5 months. Two months later, she developed further generalized seizures. Chest X-ray showed a mass lesion, which was demonstrated by needle biopsy to be a small cell lung carcinoma (SCLC). The panel of onconeural antibodies including cell-membrane antigens was negative. However, the patient's serum and cerebrospinal fluid IgG, obtained during both exacerbations, immunolabeled cytoplasm and dendrites of Purkinje cells, cerebellar and hippocampal molecular layers, basal ganglia, thalamus, and the surface of cultured hippocampal neurons, in a manner distinct from previously identified neuropil antibodies associated with SCLC. These neuropil antibodies appear to be associated with a favorable response to treatment. Further studies are required for determination of the target antigen.
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PMID:Steroid-responsive recurrent limbic encephalitis associated with small cell lung cancer and neuropil antibodies. 2174 34

Numerous patients who are prescribed antiepileptic drugs (AEDs) for epileptic seizures are already receiving other agents for the treatment of co-morbid conditions, which frequently occur alongside epilepsy. This raises additional clinical considerations and makes the use of AEDs with good safety profiles and fewer drug-drug interactions attractive. Second and third-generation anticonvulsant drugs are associated with fewer pharmacological interactions and improved tolerability compared with first-generation drugs. Furthermore, second and third-generation anticonvulsant drugs are associated with linear pharmacokinetic profiles and differing mechanisms of action, making them ideal for pluripathological and polymedicated patients. In this report, we highlight the efficacy of one such agent, lacosamide, in five patients with co-morbidities and unusual presentations of epilepsy, including a patient with paraneoplastic encephalitis caused by microcytic lung carcinoma, one with a brain tumour and one with Alzheimer's disease, as well as a case of catamenial epilepsy and one of refractory convulsive status epilepticus. In all patients, lacosamide was associated with a substantial reduction in seizure frequency and effective control of seizure episodes. Treatment was generally well tolerated in all patients, indicating that lacosamide is an effective treatment option for a variety of patients with epileptic seizures.
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PMID:Lacosamide for epileptic seizures in patients with co-morbidities and unusual presentations of epilepsy. 2214 48

Pyridoxal-5'-phosphate (PLP), the bioactive form of vitamin B6, reportedly functions as a prosthetic group for >4% of classified enzymatic activities of the cell. It is therefore not surprising that alterations of vitamin B6 metabolism have been associated with multiple human diseases. As a striking example, mutations in the gene coding for antiquitin, an evolutionary old aldehyde dehydrogenase, result in pyridoxine-dependent seizures, owing to the accumulation of a metabolic intermediate that inactivates PLP. In addition, PLP is required for the catabolism of homocysteine by transsulfuration. Hence, reduced circulating levels of B6 vitamers (including PLP as well as its major precursor pyridoxine) are frequently paralleled by hyperhomocysteinemia, a condition that has been associated with an increased risk for multiple cardiovascular diseases. During the past 30 years, an intense wave of clinical investigation has attempted to dissect the putative links between vitamin B6 and cancer. Thus, high circulating levels of vitamin B6, as such or as they reflected reduced amounts of circulating homocysteine, have been associated with improved disease outcome in patients bearing a wide range of hematological and solid neoplasms. More recently, the proficiency of vitamin B6 metabolism has been shown to modulate the adaptive response of tumor cells to a plethora of physical and chemical stress conditions. Moreover, elevated levels of pyridoxal kinase (PDXK), the enzyme that converts pyridoxine and other vitamin B6 precursors into PLP, have been shown to constitute a good, therapy-independent prognostic marker in patients affected by non-small cell lung carcinoma (NSCLC). Here, we will discuss the clinical relevance of vitamin B6 metabolism as a prognostic factor in cancer patients.
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PMID:Effects of vitamin B6 metabolism on oncogenesis, tumor progression and therapeutic responses. 2333 22


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