Chanarin-Dorfman Syndrome.
J Coll Physicians Surg Pak
; 26(9): 787-9, 2016 Sep.
Article
em En
| MEDLINE
| ID: mdl-27671187
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Eritrodermia Ictiosiforme Congênita
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Fígado Gorduroso
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Hepatomegalia
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Erros Inatos do Metabolismo Lipídico
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Doenças Musculares
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article