BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. CASE PRESENTATION: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. CONCLUSIONS: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.

Durdu, M., Missaglia, S., Moro, L., Tavian, D., Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents, <<BMC MEDICAL GENETICS>>, 2018; 19 (1): N/A-N/A. [doi:10.1186/s12881-018-0610-0] [http://hdl.handle.net/10807/121974]

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

Sara Missaglia
Secondo
Membro del Collaboration Group
;
Daniela Tavian
Ultimo
Supervision
2018

Abstract

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. CASE PRESENTATION: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. CONCLUSIONS: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.
Inglese
http://www.biomedcentral.com/bmcmedgenet/
Durdu, M., Missaglia, S., Moro, L., Tavian, D., Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents, <>, 2018; 19 (1): N/A-N/A. [doi:10.1186/s12881-018-0610-0] [http://hdl.handle.net/10807/121974]
File in questo prodotto:
File Dimensione Formato  
Durdu et al 2018.pdf

accesso aperto

Tipologia file ?: Versione Editoriale (PDF)
Licenza: Non specificato
Dimensione 1.08 MB
Formato Adobe PDF
1.08 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/121974
Citazioni
  • ???jsp.display-item.citation.pmc??? 9
  • Scopus 11
  • ???jsp.display-item.citation.isi??? 11
social impact