title: A case of recurrent acute encephalopathy with febrile convulsive status epilepticus with carnitine palmitoyltransferase II variation.
abstract: Acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) is the most common type of acute encephalopathy in childhood in Japan, which develops with prolonged febrile convulsion, followed by mild unconsciousness. It is generally sporadic and nonrecurrent. In this report, a 1-year-old girl showed signs of AEFCSE triggered by respiratory syncytial virus infection. Two years later, she presented with AEFCSE triggered by influenza virus infection, resulting in severe neurologic sequelae. The patient had a thermolabile genotype of carnitine palmitoyltransferase II (CPT II) variations consisting of three single nucleotide polymorphisms in exons 4 [1055T > G/F352C and 1102G > A/V368I] and 5 [1939A > G/M647V]. The polymorphism has been identified as a genetic predisposition for acute encephalopathy. This report presents the first case of recurrent encephalopathy with CPT II variations that may partially associate with pathogenesis of recurrent AEFCSE.
authors: Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.
authors: Eiko
authors: E
authors: Sakai
authors: Gaku
authors: G
authors: Yamanaka
authors: Hisashi
authors: H
authors: Kawashima
authors: Yasuyuki
authors: Y
authors: Morishima
authors: Yu
authors: Y
authors: Ishida
authors: Shingo
authors: S
authors: Oana
authors: Tasuku
authors: T
authors: Miyajima
authors: Mayu
authors: M
authors: Shinohara
authors: Makiko
authors: M
authors: Saitoh
authors: Masashi
authors: M
authors: Mizuguchi
mesh_terms: D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D003294:Seizures, Febrile / Q000209:etiology; D013226:Status Epilepticus / Q000209:etiology
chemical_list: D002334:Carnitine O-Palmitoyltransferase