Neuropediatrics 2013; 44(04): 218-221
DOI: 10.1055/s-0032-1333439
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

A Case of Recurrent Acute Encephalopathy with Febrile Convulsive Status Epilepticus with Carnitine Palmitoyltransferase II Variation

Eiko Sakai
1   Department of Pediatrics, Tokyo Medical University, Tokyo, Japan
,
Gaku Yamanaka
1   Department of Pediatrics, Tokyo Medical University, Tokyo, Japan
,
Hisashi Kawashima
1   Department of Pediatrics, Tokyo Medical University, Tokyo, Japan
,
Yasuyuki Morishima
1   Department of Pediatrics, Tokyo Medical University, Tokyo, Japan
,
Yu Ishida
1   Department of Pediatrics, Tokyo Medical University, Tokyo, Japan
,
Shingo Oana
1   Department of Pediatrics, Tokyo Medical University, Tokyo, Japan
,
Tasuku Miyajima
1   Department of Pediatrics, Tokyo Medical University, Tokyo, Japan
,
Mayu Shinohara
2   Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
,
Makiko Saitoh
2   Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
,
Masashi Mizuguchi
2   Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
› Institutsangaben
Weitere Informationen

Publikationsverlauf

04. September 2012

12. November 2012

Publikationsdatum:
28. Februar 2013 (online)

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.

 
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