Convulsive Satus Epilepticus with Neurocutaneous Syndrome

Convulsive Satus Epilepticus with Neurocutaneous SyndromeTitle Management of case of convulsive stance epilepticus with neurocutaneous syndromeIntroductionStatus epilepticus is life-threatening neurological disorder defined as 5minutes or more of continuous seizure without complete recovery of consciousness between seizures. It has two foms Generalized convulsive SE Non-convulsive SE. Convulsive SE is more special K in children. Commonly caused by fever, contagious predisposition, metabolic and electrolyte disturbance or head trauma, CNS infection.Neurofibromatosis is a common autosomal dominant genetic disorder. Classified into two types (NF1) which is more common in children and (NF2) which manifest later in adulthood. It is neurocutaneous syndrome characterized by diagnostic skin lesion called caf au lait patches and neural manifestations which may not be obvious and only presented when complicated by seizures which is considered an emergency case and need immediate management .Methods We searched several internet databases as Pubmed, Cochrane, Medscape, Science Direct prompt databases , and the Journal of American Academy of Neurology. Meta analysis, clinical trials, systematic reviews and randomized control trials and other observational studies concerning Status epilepticus, its investigations and different anti-epileptic drugs. In addition neurofibromatosis and tuberous sclerosis were reviewed,as wellAim to know how to diagnose, treat fol pathetic up this case to prevent further remission or complicationsResultWe came across 280 question and case report describing status epilepticus and its management. Status epilepticus is an emergency situation that needs rapid management,but if refractory and continues more than 60-90 minutes after initiation of therapy mortalities increase. Status epilepticus associated with coffee shop au lait patches is characterstic to neurocutaneous syndrome most probably neurofibromatosis type1. Status epilepticus may be complicated by Acidosis, Respiratory distress, Fever which is mediated by extreme vigor activity rather than infection, initial release of catecholamines into circulation create increase in line of work pressure and heart rate causing 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 give 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 effective as rectal diazepam but we can use rectaldiazepamif preferred or if buccal midazolam is not available. No evidence supporting dexamethazone in status epilepticus treatment 2. No evidence supporting the use of antibiotics in case of seizures caused by Nf1, the only indication to use antibiotics if me ningitis is the cause of seizures3. Asking for history of anticonvulsant and drug takes assesment is classic 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 blood transfusion in status epilepticus treatment. No evidence supporting direct effect of status epilepticus on platelet count except in rare prepare 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 assessment is of import to detect the cause and severity of status epilepticus5. Blood sugar Assessment is essential as duration extent of glucose dysregulation could be predictor of pathologi cal conclusion of status epilepticus as seizures can be exacerbated in cases of hyper or hypoglycemia and become 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 concentration causing hyper-excitability and Neuronal death result from large increase in intracellular calcium7. Genetic testing involving exome sequencing may help in reaching accurate diagnosis and may reveal novel autosomal recessive genes associated with idiopathic epilepsy. No enough evidence supporting abdominal sonar8. Brain Imaging can detect the etiology of status epilepticus espicially MRI, It helps to identify and localize epileptic foci9. CSF analysis is important in detecting cause of status epilepticus as it may diagnose autoimmune disorder when there is high titre of CSF GABAA receptor antibodies or showing in vivo biomarkers for neuronal d amage after epileptic seizure10.ConclusionThis child is suffering from Status epilepticus which is most probably caused by neurofibromatosis type1. For investigation, I preach 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 fluid analysis and genetic testing. He is prone 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 or platelets transfusion. reference crop 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 four treatments for generalized 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, Testa FM, DSouza R. Remission of epilepsy after two drug failures in children a prospective study. Ann Neurol Internet. 2009 May cited 2014 Apr 2065(5)5109. 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