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)

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria with a slowly progressive course regarding CNS involvement. We present a 13.5-year-old female patient who presented at the Emergency Department with a generalized status epilepticus, which promptly responded to intravenous phenytoin. CT and MRI demonstrated subcortical white matter alterations. The neurological examination revealed mild mental retardation, macrocephaly and ataxic gait with cerebellar signs. Repeated urinary organic acid analysis demonstrated increased excretion of 2-hydroxyglutaric acid which was of the L-configuration. The constellation of macrocephaly in a patient with mental retardation, cerebellar tract involvement and subcortical white matter signal alterations on MRI should alert the physician to the possibility of L-2-HGA. Although rare, epileptic seizures or even status epilepticus can be among the presenting symptoms in organic acidurias with a slow course, such as L-2-HGA.
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PMID:L-2-Hydroxyglutaric aciduria presenting as status epilepticus. 1137 7

Severe infant epilepsy is included within difficult etiologic diagnosis. Gray matter heterotopias are an uncommon cause. The authors report four observations of gray matter heteropias concerning three-, six-, seven- and nine-year-old girls, presenting no particular antecedents. No consanguinity was noted. The first occurrence of epilepsy ranged from the age of nine months to the age of four years. A mild mental retardation was found in three cases, and mental regression in one case. A status epilepticus was noted in three children. Magnetic resonance imaging scans showed subependymal heterotopias in one case and diffuse cortical heterotopias in three cases associated to a partial agenesis of corpus calloseum in one case and pachygyria in two cases.
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PMID:[Heterotopic gray matter. Report of four pediatric cases]. 1281 78

The authors report the clinical features, electroencephalography (EEG), neuroimaging (brain magnetic resonance image-MRI), and cytogenetic findings of a young female patient with rare cytogenetic anomalies characterized by de novo 46, XX, r (20) (p13q13.3). The patient had a history of mild mental retardation, emotional liability and intractable epilepsy with non-convulsive status epilepticus. The MRI brain showed focal cerebral dysplasia over the left temporal region. The multiple seizures were refractory to antiepileptic medications and prolonged, confused state with or without a motor component. The continuous video-EEG monitor showed epileptiform discharges over bilateral frontal regions with frontal origin. The symptoms were relieved after midazolam infusion. A patient who was present with intractable epilepsy with continuous frontal epileptiform discharges, mental retardation, abnormal behavior, without dysmorphic features should be suspected of chromosomal abnormalities especially ring chromosome 20.
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PMID:Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report. 2539 Nov 99