Chanarin–Dorfman syndrome: a novel mutation in a Turkish girl
Chanarin–Dorfman syndrome: a novel mutation in a Turkish girl
Ünlüsoy-Aksu A, Sarı S, Eğritaş-Gürkan Ö, Dalgıç B. Chanarin– Dorfman syndrome: a novel mutation in a Turkish girl. Turk J Pediatr 2015; 57: 300-303. Chanarin–Dorfman syndrome (CDS) is an autosomal recessive disorder, characterized by intracellular accumulation of lipid droplets in most tissues. It is very difficult to find a correlation between the phenotypic and genotypic features due to the occurrence of novel ABHD5 [α/β hydrolase domain-containing protein-5; originally called CGI-58 (comparative gene identification-58)] mutations and the fact that there are only a few cases in the literature. The protein encoded by this gene is a cofactor for adipose triglyceride lipase (ATGL), which promotes the catabolism of stored fat. The clinical phenotype involves multiple organs and systems. Ichthyosis, nonbullous congenital ichthyosiform erythroderma and cytoplasmic accumulation of lipid droplets in granulocytes (Jordans’ bodies) are always present. Peripheral blood smear is an easy method for diagnosing CDS; its use can also avoid unnecessary further testing. Herein, we report a patient with a homozygous mutation in ABHD5 that has never previously been described. Moreover, the case was diagnosed as Chanarin–Dorfman syndrome with only a peripheral blood smear.
___
- 1. Rozenszajn L, Klajman A, Yaffe D, Efrati P. Jordans’ anomaly in white blood cells. Report of case. Blood 1966; 28: 258-265.
- 2. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974, 110: 261-266.
- 3. Chanarin I, Patel A, Slavin G, W ills EJ, Andrews TM, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J 1975, 1: 553-555.
- 4. Redaelli C, Coleman RA, Moro L, et al. Clinical and genetic characterization of Chanarin–Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis 2010; 5: 33.
- 5. Pahwa M, Kar R, Singh A, Goel A, Ramesh V, Jain R. Chanarin–Dorfman syndrome with eccrine gland vacuolation: a case report. Int J Dermatol 2008; 47: 1257-1259.
- 6. Aksu G, Kalkan Ucar S, Bulut Y, et al. Renal involvement as a rare complication of Dorfman–Chanarin syndrome: a case report. Pediatr Dermatol 2008; 25: 326-331.
- 7. Taskin E, Akarsu S, Aygun AD, Ozlu F, Kilic M. Rickets with Dorfman–Chanarin syndrome. Acta Haematol 2007; 117: 16-19.
- 8. Chander R, Varghese B, Garg T, Mittal S, Singh S. Dorfman–Chanarin syndrome in two female siblings: a case report and discussion on approach and management. Dermatol Online J 2011; 17: 7.
- 9. Gandhi V, Aggarwal P, Dhawan J, Singh UR, Bhattacharya SN. Dorfman–Chanarin syndrome. Indian J Dermatol Venereol Leprol 2007; 73: 36-39.
- 10. Srinivasan R, Hadzić N, Fischer J, Knisely AS. Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman–Chanarin syndrome with documented ABHD5 mutation. J Pediatr 2004; 144: 662-665.
- 11. Ronchetti A, Prati D, Pezzotta MG, et al. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation. J Hepatol 2008; 49: 474-477.
- 12. Lefèvre C, Jobard F, Caux F, et al. Mutations in CGI- 58, the gene encoding a new protein of the esterase/ lipase/thioesterase subfamily, in Chanarin–Dorfman syndrome. Am J Hum Genet 2001; 69: 1002-1012.
- 13. Lass A, Zimmermann R, Haemmerle G, et al. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin– Dorfman Syndrome. Cell Metab 2006; 3: 309-319.
- 14. Yamaguchi T. Crucial role of CGI-58/alpha/beta hydrolase domain-containing protein 5 in lipid metabolism. Biol Pharm Bull 2010; 33: 342-345.
- 15. Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R. CGI-58, the causative gene for Chanarin–Dorfman syndrome, mediates acylation of lysophosphatidic acid. J Biol Chem 2008; 283: 24525- 24533.
- 16. Emre S, Unver N, Evans SE, et al. Molecular analysis of Chanarin–Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. Eur J Med Genet 2010; 53: 141-144.