Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome

IF 1.9 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-10-07 DOI:10.1016/j.ymgmr.2025.101265

Kinza Noman , Andreas Tridimas , James B. Lilleker , Gaetano Nucifora , Peter Woolfson , Daniel du Plessis , Alison Woodall , Andrew Oldham , Mark E. Roberts , John Bassett , Federico Roncaroli , Simon A. Jones , Stefan Coassin , Florian Kronenberg , Karolina M. Stepien

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引用次数: 0

Abstract

Chanarin-Dorfman syndrome (CDS) is an ultra-rare autosomal recessive subtype of neutral lipid storage disorder (NLSD); it is characterised by ichthyosis and intracytoplasmic accumulation of lipid droplets containing triglycerides, most commonly in granulocytes, muscle fibres, skin and liver. Several pathogenic variants in the ABHD5/CGI-58 gene have been described. Clinical manifestations include steatohepatitis, myopathy, ophthalmic disease, developmental delay. Liver involvement is an important cause of morbidity and mortality.

We present a case of a 26-year-old male diagnosed with ichthyotic NLSD in childhood, who developed progressive myopathy and cardiac fibrosis in adulthood. He was treated with a combination of low-fat diet, MCT oil and co-enzyme Q10 which resulted in an initial improvement in muscle strength and stabilisation of muscle symptoms and well-being.

Synopsis: Medical and dietetic management of liver and muscle complications in Chanarin-Dorfman syndrome.

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成年男性Chanarin-Dorfman综合征的长期神经肌肉、心脏和肝脏预后

Chanarin-Dorfman综合征（CDS）是一种超罕见的常染色体隐性中性脂质储存障碍（NLSD）亚型；其特征是鱼鳞病和含有甘油三酯的脂滴在胞浆内积聚，最常见于粒细胞、肌纤维、皮肤和肝脏。已经描述了ABHD5/CGI-58基因的几种致病变异。临床表现包括脂肪性肝炎、肌病、眼疾、发育迟缓。肝脏受累是发病和死亡的重要原因。我们报告了一个26岁的男性在儿童期被诊断为鱼鳞病性NLSD，在成年期发展为进行性肌病和心脏纤维化。患者接受低脂饮食、MCT油和辅酶Q10联合治疗，肌肉力量得到初步改善，肌肉症状和健康状况得到稳定。摘要：Chanarin-Dorfman综合征肝脏和肌肉并发症的医学和饮食管理。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.