Jordans' anomaly in Chanarin-Dorfman syndrome.

IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine Pub Date : 2024-11-18 eCollection Date: 2025-03-01 DOI:10.1515/almed-2024-0159
Jorge Sánchez-Cortés, Xavier Gabaldó-Barrios
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引用次数: 0

Abstract

Objectives: Chanarin-Dorfman syndrome is a rare disease inherited in an autosomal recessive pattern whose prevalence does not exceed 130 cases worldwide.

Case presentation: A 4-year-old patient with generalized erythematous-desquamative ichthyosiform syndrome since birth. The main laboratory finding was persistent hypertransaminasemia. Supplementary studies included peripheral blood smear (PBS), which revealed the presence of multiple cytoplasmatic vacuoles in polymorphonuclear leukocytes (PMN) and platelets. Ichthyosiform lesions concomitant to the presence of lipid vacuoles in peripheral blood PMNs are signs of Chanarin-Dorfman syndrome. Diagnostic suspicion was confirmed by genetic sequencing.

Conclusions: Chanarin-Dorfman syndrome is characterized by a mutation in the CGI-58 gene. This gene is involved in the catabolism of long-chain triglycerides stored in cytoplasmic lipid droplets. Jordans' anomaly is a congenital alteration characterized by the presence of multiple vacuoles in the granulocytic series due to defective lipid metabolism. In this syndrome, long-chain triglycerides build up in tissues, thereby causing dermatological manifestations that are controllable through diet.

Abstract Image

Chanarin-Dorfman综合征的jordan异常。
目的:Chanarin-Dorfman综合征是一种罕见的常染色体隐性遗传疾病,全球患病率不超过130例。病例介绍:1例4岁患者,自出生起就患有全身性红斑脱皮鱼鳞样综合征。主要的实验室发现是持续性高转氨酶血症。补充研究包括外周血涂片(PBS),显示多形核白细胞(PMN)和血小板中存在多个细胞质空泡。鱼鳞样病变伴外周血PMNs出现脂质空泡是Chanarin-Dorfman综合征的征象。基因测序证实了诊断怀疑。结论:Chanarin-Dorfman综合征以CGI-58基因突变为特征。该基因参与储存在细胞质脂滴中的长链甘油三酯的分解代谢。Jordans异常是一种先天性改变,其特征是由于脂质代谢缺陷导致粒细胞系列中存在多个空泡。在这种综合征中,长链甘油三酯在组织中积聚,从而引起可通过饮食控制的皮肤病表现。
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