Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chantarin syndrome with documented, ABHD5 mutation

被引：34

作者：

Srinivasan, R

Hadzic, N

Fischer, J

Knisely, AS

机构：

[1] Kings Coll Hosp London, Inst Liver Studies, London SE5 9RS, England

[2] Kings Coll Hosp London, Dept Child Hlth, London SE5 9RS, England

[3] Ctr Natl Genotypage, Dermatol Dis Projects, Evry, France

来源：

JOURNAL OF PEDIATRICS | 2004年 / 144卷 / 05期

关键词：

D O I：

10.1016/j.jpeds.2004.01.036

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

Mutation in ABHD5 causes Dorfman-Chanarin syndrome (DCS), a multisystem triglyceride storage disorder. Ultrastructural study of leukocytes confirmed DCS in a child homozygous for a novel ABHD5 mutation, with ichthyosis, developmental delay, and steatohepatitis with cirrhosis, manifest only as elevated aminotranferase levels. We recommend early assessment for liver disease in DCS.

引用

页码：662 / 665

页数：4

共 12 条

[1]

MULTISYSTEM TRIGLYCERIDE STORAGE DISORDER WITH IMPAIRED LONG-CHAIN FATTY-ACID OXIDATION [J].

ANGELINI, C ;

PHILIPPART, M ;

BORRONE, C ;

BRESOLIN, N ;

CANTINI, M ;

LUCKE, S .

ANNALS OF NEUROLOGY, 1980, 7 (01) :5-10

[2]

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28 [J].

Baala, L ;

Hadj-Rabia, S ;

Hamel-Teillac, D ;

Hadchouel, M ;

Prost, C ;

Leal, SM ;

Jacquemin, E ;

Sefiani, A ;

de Prost, Y ;

Courtois, G ;

Munnich, A ;

Lyonnet, S ;

Vabres, P .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 119 (01) :70-76

[3]

Igal RA, 1998, J LIPID RES, V39, P31

[4]

JORDANS GHW, 1953, ACTA MED SCAND, V145, P419

[5]

Kakourou T, 1997, ARCH DIS CHILD, V77, P184

[6]

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome [J].

Lefevre, C ;

Jobard, F ;

Caux, F ;

Bouadjar, B ;

Karaduman, A ;

Heilig, R ;

Lakhdar, H ;

Wollenberg, A ;

Verret, JL ;

Weissenbach, J ;

Özgüc, M ;

Lathrop, M ;

Prud'homme, JF ;

Fischer, J .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1002-1012

[7]

Molleston JP, 2002, AM J GASTROENTEROL, V97, P2460

[8]

MURANJAN MN, 2000, INDIAN PEDIATR, V37, P88

[9]

Nonalcoholic steatohepatitis: Summary of an AASLD Single Topic Conference [J].

Neuschwander-Tetri, BA ;

Caldwell, SH .

HEPATOLOGY, 2003, 37 (05) :1202-1219

[10]

*OMIN, 275630 MIM

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