Open Access Case report

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

Sara Missaglia1, Eugenia Ribeiro Valadares3, Laura Moro4, Eleonora Druve Tavares Faguntes5, Raquel quintão Roque6, Bruno Giardina17 and Daniela Tavian12*

Author Affiliations

1 CRIBENS-Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart, Milan, Italy

2 Psychology Department, Catholic University of the Sacred Heart, Milan, Italy

3 Department of Propedêutica Complementar, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

4 Department of Pharmaceutical Sciences, University of Piemonte Orientale “A. Avogadro”, Novara, Italy

5 Department of Pediatrics, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

6 Ambulatório de Erros Inatos do Metabolismo, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

7 Laboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University, School of Medicine, Rome, Italy

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BMC Medical Genetics 2014, 15:32  doi:10.1186/1471-2350-15-32

Published: 14 March 2014



α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated with the onset of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive lipid storage disorder, characterized by non-bullous congenital ichthyosiform erythroderma (NCIE), hepatomegaly and liver steatosis.

Case presentation

We describe here a 5-years-old Brazilian child who presented with NCIE at birth and diffuse micro and macro-vesicular steatosis on liver biopsy since she was 2 years old. Molecular analysis of coding sequence and putative 5′ regulatory region of ABHD5 gene was performed. A homozygous novel deletion, affecting the promoter region and the exon 1, was identified, confirming the suspected diagnosis of CDS for this patient. RT-PCR analysis showed that the genomic rearrangement completely abolished the ABHD5 gene expression in the patient, while only a partial loss of expression was detected in her parents. This is the first report describing the identification of a large deletion encompassing the promoter region of ABHD5 gene. The total loss of ABHD5 expression may explain the early onset of CDS and the severe liver involvement. After molecular diagnosis, the patient started a special diet, poor in fatty acids with medium chain triglycerides (MCT), and showed hepatic and dermatologic improvement in spite of severe molecular defect.


This case report extends the spectrum of disease-causing ABHD5 mutations in CDS providing evidence for a novel pathogenic mechanism for this rare disorder. Moreover, our preliminary data show that early diagnosis and prompt treatment of neutral lipid accumulation might be useful for CD patients.

Chanarin-Dorfman syndrome; ABHD5; Lipid disorder; Liver involvement; Ichthyosis