Chanarin-Dorfman syndrome
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2016; 26 (9): 787-789
in English
| IMEMR
| ID: emr-183703
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
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Index:
IMEMR (Eastern Mediterranean)
Language:
English
Journal:
J. Coll. Physicians Surg. Pak.
Year:
2016
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