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)

Ring chromosome 20 (r(20)) syndrome is a rare disease characterized by refractory epilepsy, moderate mental retardation and particular electroencephalographic disorder with non-convulsive status epilepticus. Here, we report a new case of r(20) syndrome in a 12 year old female who presented minimal dysmorphism, generalised tonic-clonic and absence seizures refractory to medical therapy and behavioural troubles. Among 20 cytogenetically analysed cells, 14 (70%) exhibited a 46,XX,r(20)(p13q13.3) karyotype and 6 (30%) showed a normal 46,XX caryotype. Interphasic FISH using centromeric probe of chromosome 20 detects the presence of a chromosome 20 monosomy in 7% and a duplicated ring chromosome 20 in 8% of studied cells. Metaphase FISH using chromosome 20 telomeric probes and specific probes of CHRNA4 and KCNQ2 genes detects the absence of any deletion in the ring chromosome 20. Clinical symptoms of r(20) syndrome are attributed to telomeric partial monosomy generated by ring chromosome and causing an haploinsufficiency of two epilepsy genes CHRNA4 and KCNQ2. However, our patient presents the typical epilepsy disorder but no detectable deletion in the ring chromosome 20. We speculate that clinical features of ring chromosome 20 syndrome are caused by low mosaicism of chromosome 20 monosomy caused by the loss of the ring chromosome 20.
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PMID:Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. 1785 Nov 50

Intravascular lymphoma (IVL) is a rare disease form of malignant lymphoma, and it is characterised by the selective growth of lymphoma cells within the lumina of vessels. Identification of this disease at an early stage is difficult because of non-specific clinical symptoms and neuroradiological findings. Most reported IVL cases are diagnosed at post-mortem following autopsy. We report the case of a patient who presented with status epilepticus (SE) as the initial manifestation of IVL. Despite the administration of anti-convulsant agents and general care the patient's condition deteriorated rapidly after admission, culminating in death due to respiratory failure and heart failure 21 days after the onset of symptoms. Post-mortem examination revealed IVL in the brain and multiple organs. Epileptic seizures often appear during the clinical course of IVL; however, they occur most frequently at advanced stages. Diagnosis of IVL that first presents with SE is of clinical importance because the treatment and prognosis of acute SE arising from IVL are different from those of SE originating from other causes.
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PMID:Status epilepticus as the initial presentation of intravascular lymphoma. 2280 6

Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and afebrile, generalized and unilateral, clonic or tonic-clonic seizures that occur in the first year of life in an otherwise apparently normal infant. They are later associated with myoclonus, atypical absences, and partial seizures. Developmental delay becomes apparent within the second year of life and is followed by definite cognitive impairment and personality disorders of variable intensity. In the borderline form, children do not present with myoclonic symptoms but have the same general picture. SMEI is a channelopathy and the genetic studies have shown a mutation in the SCN1A gene in 70 to 80% of the patients, including the borderline forms. At present, there are no well-established correlations between genotype and phenotype. The electroencephalograms, often normal at the onset, display both generalized and focal anomalies, without a specific electroencephalographic pattern. As a rule, neuroimaging is normal. All seizure types are resistant to antiepileptic drugs and status epilepticus is frequent. Some drugs have been shown to aggravate the seizures and must be avoided. Two recent drugs have been proved to partially control the convulsive seizures and the status epilepticus. Therefore, it is crucial to diagnose this epilepsy soon after its onset in order to prescribe the most appropriate treatment.
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PMID:Dravet syndrome (severe myoclonic epilepsy in infancy). 2362 10

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting in clinical and biochemical manifestations of extreme inflammation. Myelodysplastic syndrome (MDS) represents a heterogenous group of clonal hematopoietic disorders. The development of MDS is common in children with trisomy of chromosome 8. Here, we report a fatal case of 8-year-old girl who was admitted to the emergency department with status epilepticus, and later diagnosed with HLH associated with MDS and trisomy of chromosome 8. We believe this is the first reported case of HLH associated with MDS and trisomy 8 in a pediatric patient.
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PMID:A Rare Case of Hemophagocytic Lymphohistiocytosis Associated With Myelodysplastic Syndrome and Trisomy 8 in a Pediatric Patient. 2968 49

Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events. We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene. Results were positive in 7 cases and revealed de novo variants at the heterozygous state in different exons of the gene for all except one, where the variant was intronic. Four variants were novel. Confirmation of Dravet syndrome is important for a better follow-up and treatment, preventing the occurrence of status epilepticus and severe neurological deterioration.
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PMID:Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. 3080 6

Febrile infection-related epilepsy syndrome (FIRES) is an intractable neurological disease characterized by an unexplained refractory status epilepticus triggered by febrile infection. A Consensus definition of FIRES was proposed in 2018, and its clinical features and prognosis are gradually being clarified. However, the development of effective treatments has been hindered as the etiology of this rare disease is as yet unelucidated. The basic approach to the management of FIRES, like other forms of epilepsy, is based on the control of seizures, however seizures are extremely intractable and require intravenous administration of large doses of anticonvulsants, mainly barbiturates. This treatment strategy produces various complications including respiratory depression and drug hypersensitivity syndrome, which make it more difficult to control seizures. Consequently, it is crucial to predict these events and to formulate a planned treatment strategy. As well, it is important to grow out of conventional treatment strategies that rely on only anticonvulsants, and alternative therapies are gradually being developed. One such example is the adoption of a ketogenic diet which may lead to reduced convulsions as well as improve intellectual prognosis. Further, overproduction of inflammatory cytokines in the central nervous system has been shown to be strongly related to the pathology of FIRES which has led to attempts at immunomodulation therapy including anti-cytokine therapy.
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PMID:Neurocritical care and target immunotherapy for febrile infection-related epilepsy syndrome. 3233 Jun 81

Fahr's disease is a rare disease in which there is symmetrical bilateral intracranial calcification. We are presenting a 50-year-old female patient who presented with status epilepticus. She had history of generalized tonic clonic fits for the last fifteen years. Her CT scan revealed widespread bilateral and symmetrical intracranial calcification in cerebellum, thalamus, basal ganglia and in white matter of the cerebral hemisphere Most of the secondary causes were ruled out to make the clinical diagnosis of Fahr's disease.
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PMID:Fahr's Disease In A Patient Presenting With Status Epilepticus. 3258 12