Chanarin-Dorfman Syndrome.
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.
Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore.
Nadia
N
Waheed
Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore.
Huma Arshad
HA
Cheema
Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore.
Hassan
H
Suleman
Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore.
Iqra
I
Mushtaq
Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore.
Zafar
Z
Fayyaz
D001706:Biopsy; D002675:Child, Preschool; D004643:Emollients / Q000627:therapeutic use; D005234:Fatty Liver / Q000473:pathology*; D006529:Hepatomegaly / Q000000981:diagnostic imaging*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
D004643:Emollients