Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation

Vol.21 No.6

Case Report

Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation

Authors

Masahiro Tahara^1,2 , Hidemasa Sakai³ , Ryuta Nishikomori³ , Takahiro Yasumi³ , Toshio Heike³ , Ikuo Nagata⁴ , Ayano Inui⁵ , Tomoo Fujisawa⁵ , Yosuke Shigematsu⁶ , Koji Nishijima¹ , Katsuji Kuwakado¹ , Shinichi Watabe¹, Junji Kameyama¹

Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan
Department of Pediatrics, Tsuchiya General Hospital, 3-30 Nakashima, Naka-ku, Hiroshima, 730-8655, Japan
Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago, Japan
Department of Pediatrics, Yokohama City Tobu Hospital, Yokohama, Japan
Department of Health Science, Faculty of Medicine Sciences, University of Fukui, Fukui, Japan

Received:

24 November 2010

Accepted:

22 February 2011

Published online:

12 March 2011

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Abstract

A Japanese girl with neonatal-onset chronic hepatitis and systemic inflammation was diagnosed with hyper-immunoglobulinemia D and periodic fever syndrome (HIDS). However, she lacked the typical HIDS features until the age of 32 months. She had compound heterozygous MVK mutations, H380R and A262P, the latter of which was novel. These findings suggest that HIDS patients could lack typical episodes of recurrent fever at the onset and that HIDS should be considered as a possible cause of neonatal-onset chronic hepatitis.

Key words

Autoimmune hepatitis - Hyper-IgD syndrome - Liver biopsy - MVK gene -Neonatal-onset chronic hepatitis