Convulsive Satus Epilepticus with Neurocutaneous Syndrome

Convulsive Satus Epilepticus with Neurocutaneous SyndromeTitle Man datement of b sure-enough(a)ness of convulsive emplacement epilepticus with neurocutaneous syndromeIntroduction experimental condition epilepticus is life-threatening neurological disorder defined as 5minutes or more of continuous seizure without complete recovery of instinct between seizures. It has two foms Generalized convulsive SE Non-convulsive SE. Convulsive SE is more normal in children. Comm alone ca make use ofd by fever, genetic predisposition, metabolic and electrolyte disturbance or head trauma, CNS infection.Neurofibromatosis is a parkland autosomal dominant genetic disorder. Classified into two causes (NF1) which is more common in children and (NF2) which manifest later in adulthood. It is neurocutaneous syndrome characterized by diagnostic bark lesion called caf au lait patches and neural manifestations which whitethorn non be obvious and that presented when complicated by seizures which is c onsidered an emergency look and need immediate management.Methods We searched some(prenominal) internet databases as Pubmed, Cochrane, Medscape, Science Direct Trip databases , and the Journal of American honorary society of Neurology. Meta analysis, clinical trials, systematic reviews and randomized control trials and other data-based studies concerning view epilepticus, its investigations and different anti-epileptic medicines. In addition neurofibromatosis and Tuberous sclerosis were reviewed,as wellAim to know how to diagnose, treat follow up this case to prevent further remission or complicationsResultWe came across 280 explore and case report describing term epilepticus and its management. Status epilepticus is an emergency situation that call for rapid management, moreover if refractory and continues more than 60-90 minutes after initiation of therapy mortalities increase. Status epilepticus associated with cafe au lait patches is characterstic to neurocutaneous syn drome around probably neurofibromatosis type1. Status epilepticus may be complicated by Acidosis, Respiratory distress, Fever which is mediated by extreme muscle activity rather than infection, initial release of catecholamines into circulation grounds increase in kindred pressure and heart rate create cardiac arrhythmia, Catecholamine excess causing hyperglycemia1. Saving life by maintaining ABC, Introducing vascular access and giving lorazepam are the first line in management, If there is no response within 10 minutes deliver another dose of lorazepam, If there is no response within 10 minutes give phenytoin, If convulsions persist more than 20 minutes use general anesthesia and put the patient on mechanical ventilation. buccal midazolam is as workive as rectal diazepam but we can use rectaldiazepamif preferred or if buccal midazolam is not available. No record supporting dexamethazone in place epilepticus treatment 2. No state supporting the use of antibiotics in case o f seizures caused by Nf1, the only indication to use antibiotics if meningitis is the cause of seizures3. Asking for history of anticonvulsant and drug levels assesment is important as there is significant variation in effect and response to anti-epileptic drugs as seizures may develop even with taking themas in case of low dose of anti-epileptic drug, non-compliance to antiepileptic drugs. Adding new antiepileptic drugs to old ones to decrease seizures is required in some cases4. No enough evidence supporting blood transfusion in status epilepticus treatment. No evidence supporting direct effect of status epilepticus on platelet total except in rare condition of lorazepam toxicity that leads to abnormally decreased platelet count. Mitochondrial encephalopathy, Lactic Acidosis and Stroke-Like Episode presents in pediatric age group so pyruvate and lactate judgement is important to detect the cause and severity of status epilepticus5. Blood sugar Assessment is important as duration extent of glucose dysregulation could be predictor of pathological outcome of status epilepticus as seizures can be exacerbated in cases of hyper or hypoglycemia and make up resistant to antiepileptics when blood glucose is not controlled6. Electrolyte assessment including (Na, ca and cl) is important as seizures result from loss of balance between intracellular and extracellular chloride ducking causing hyper-excitability and Neuronal death result from large increase in intracellular calcium7. Genetic testing involving exome sequencing may help in gain accurate diagnosis and may reveal novel autosomal recessive genes associated with idiopathic epilepsy. No enough evidence supporting abdominal sonar8. flair Imaging can detect the etiology of status epilepticus espicially MRI, It helps to identify and congeal epileptic foci9. CSF analysis is important in detecting cause of status epilepticus as it may diagnose autoimmune disorder when there is in high spirits titre of CSF G ABAA receptor antibodies or showing in vivo biomarkers for neuronal disparage after epileptic seizure10.ConclusionThis child is suffering from Status epilepticus which is most probably caused by neurofibromatosis type1. For investigation, I press immediate assessment of blood sugar level, electrolytes disturbance, purvate and lactate levels and antiepileptic drug level (in case of history of intake). Later on after stabilization of condition, I recommend brain imaging, cerebral melted analysis and genetic testing. He is disposed to be complicated by acidosis, respiratory distress, fever, increase in blood pressure and heart rate,arrhythmia and hyperglycemia. Status epilepticus with NF1 is very serious due to its high mortality rate. Modulating the dose and the type of antiepileptics is a must according to the drug level and history of intake. Lorazepam intravenous is better than rectal diazepam in this situation. There is no evidence recommend dexamethasone, antibiotics, blood o r platelets transfusion. reference Pollard H, Cantagrel S, Charriaut-Marlangue C, Moreau J, Ben Ari Y. Apoptosis associated DNA fragmentation in epileptic brain damage. Neuroreport 19945 1053-5. 1Treiman DM, Meyers PD, Walton NY, Collins JF, Colling C, Rowan AJ, et al. A comparison of quaternity treatments for extrapolate convulsive status epilepticus. N Engl J Med. 1998339792. 2JN Friedman Canadian paediatric Society, Acute Care Committee. Emergency management of the paediatric patient with generalized convulsive status epilepticus. Paediatr Child Health Internet. 201116(2)91-7 3Berg AT, Levy SR, seed coat FM, DSouza R. Remission of epilepsy after two drug failures in children a prospective study. 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