Chanarin-dorfman Syndrome.

Nadia Waheed; Huma Arshad Cheema; Hassan Suleman; Iqra Mushtaq; Zafar Fayyaz

Author(s)

Nadia Waheed Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore, Pakistan

Huma Arshad Cheema Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore, Pakistan

Hassan Suleman Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore, Pakistan

Iqra Mushtaq Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore, Pakistan

Zafar Fayyaz Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore, Pakistan

Abstract

Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy showed steatohepatitis; and peripheral blood smear confirmed Jordan`s anomaly, which is a permanent feature of Chanarin-Dorfman syndrome.

Publication Details

Page(s) 787-789

DOI DOI not available

Published Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 26, Issue: 9, Year: 2016

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Keywords

Chanarin-Dorfman syndrome. Non-bullous icthyosiform erythroderma. Jordan's anomaly.

References

2014.Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter,BMC Med Genet 15 32 -

JudgeMR,McLeanWH,MunroCS,BurnsT,BreathnachS,CoxN,GriffithsC, 2004.Disorders of keratinization,Rook's Textbook of Dermatology. 7th ed. Oxford, London: Blackwell Science 34 111 -

SamuelovL,Fuchs-TelemD,SarigO,SprecherE, 2011.An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family,Br J Dermatol 164 1390 -2

SchweigerM,LassA,ZimmermannR,EichmannTO,ZechnerR, 2009.Neutral lipid storage disease: Genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI58/ABHD5,Am J Physiol Endocrinol Metab 297 289 -96

GuptaP,KaurG, 2005.Chanarin-Dorfman syndrome neonatal diagnosis and 3-year follow-up,Indian Pediatr 42 1054 -5

RozenszajnL,KlajmanA,YaffeD, 1966.,Jordan's Anomaly in White Blood Cells: Report of Case. Blood 28 258 -65

LefevreC,JobardF,CauxF,BouadjarB,KaradumanA,HeiligR, .Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, -

PujolRM, 2005.Erythrokeratoderma variabilis-like icthyosis in Chanarin-Dorfman syndrome,Br J Dermatol 153 838 -41

CakirM,BrunoC,CansuA,CobanogluU, 2010.Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5,Acta Paediatr 99 1592 -4

EI-KabbanyZ,ElsayedSM,RashadM,TareefR,GalalN., 2003.Dorfman-Chanarin syndrome in Egypt,Am J Med Genet A 15 75 -8