PDF(Pubmed)
Abstract：
Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern. In CDS, a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear. CDS patients present with a characteristic dermatological finding, ichthyosis, which is a non-bullous white scaling of the skin. Here, we describe a case report of a one-year-old boy who presented to the pediatric outpatient department (OPD) with chief complaints of peeling of the skin and ballooning of the abdomen since birth. Our patient had achieved all the developmental milestones pertaining to his age. Genetic testing was positive for heterozygous alleles in both parents.
摘要：
Chanarin-Dorfman综合征（CDS）是一种罕见的医学疾病，以常染色体隐性遗传模式遗传。在CDS中，比较基因鉴定-58基因突变导致中性粒细胞中甘油三酯的积累，在外周涂片上可以观察到液泡。CDS患者表现出特征性的皮肤病学表现，鱼鳞病,这是皮肤的非大疱性白色鳞屑。这里,我们描述了一例1岁男孩到儿科门诊部(OPD)就诊的病例报告,主诉自出生起皮肤脱落和腹部膨胀.我们的患者已经实现了与他的年龄有关的所有发展里程碑。父母双方的杂合等位基因遗传检测均为阳性。
