Cerebral lipid accumulation in chanarin-dorfman syndrome

Marleen C D G Huigen, Marinette van der Graaf, Eva Morava-Kozicz, A. Carin M Dassel, Maurice A M van Steensel, Marieke M B Seyger, Ron A. Wevers, Michèl A. Willemsen

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a deficiency of CGI-58 and in intracellular accumulation of triacylglycerol in skin and liver. Patients are mainly characterized by congenital ichthyosis, but the clinical phenotype is very heterogeneous. Distinct brain involvement has never been described.We present a clinical description of two patients with congenital ichthyosis. On suspicion of Sjögren-Larsson syndrome (SLS) single-voxel 1H-MR spectroscopy of the brain was performed and biochemical testing of fatty aldehyde dehydrogenase (FALDH) to establish this diagnosis gave normal results.Vacuolisation in a peripheral blood smear has led to the CDS suspicion. In both patients the diagnosis CDS was confirmed by ABHD5 mutation analysis. Interestingly, a clear lipid accumulation in the cerebral white matter, cortex and basal ganglia was demonstrated in both CDS-patients.These results demonstrate, for the first time, cerebral involvement in CDS and give new insights in the complex phenotype. Since the clinical implications of this abnormal cerebral lipid accumulation are still unknown, further studies are warranted.

Original languageEnglish (US)
Pages (from-to)51-54
Number of pages4
JournalMolecular Genetics and Metabolism
Volume114
Issue number1
DOIs
StatePublished - Jan 1 2015
Externally publishedYes

Fingerprint

long-chain-aldehyde dehydrogenase
Brain
Lipids
Ichthyosis
Liver
Skin
Triglycerides
Blood
Genes
Spectroscopy
Defects
Testing
Phenotype
Basal Ganglia
Magnetic Resonance Spectroscopy
Chanarin-Dorfman Syndrome
Mutation

Keywords

  • Cerebral lipid accumulation
  • Chanarin-dorfman syndrome
  • Inherited metabolic disease
  • Neutral lipid storage disease with ichthyosis
  • Proton MRS

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)

Cite this

Huigen, M. C. D. G., van der Graaf, M., Morava-Kozicz, E., Dassel, A. C. M., van Steensel, M. A. M., Seyger, M. M. B., ... Willemsen, M. A. (2015). Cerebral lipid accumulation in chanarin-dorfman syndrome. Molecular Genetics and Metabolism, 114(1), 51-54. https://doi.org/10.1016/j.ymgme.2014.10.016

Cerebral lipid accumulation in chanarin-dorfman syndrome. / Huigen, Marleen C D G; van der Graaf, Marinette; Morava-Kozicz, Eva; Dassel, A. Carin M; van Steensel, Maurice A M; Seyger, Marieke M B; Wevers, Ron A.; Willemsen, Michèl A.

In: Molecular Genetics and Metabolism, Vol. 114, No. 1, 01.01.2015, p. 51-54.

Research output: Contribution to journalArticle

Huigen, MCDG, van der Graaf, M, Morava-Kozicz, E, Dassel, ACM, van Steensel, MAM, Seyger, MMB, Wevers, RA & Willemsen, MA 2015, 'Cerebral lipid accumulation in chanarin-dorfman syndrome', Molecular Genetics and Metabolism, vol. 114, no. 1, pp. 51-54. https://doi.org/10.1016/j.ymgme.2014.10.016
Huigen MCDG, van der Graaf M, Morava-Kozicz E, Dassel ACM, van Steensel MAM, Seyger MMB et al. Cerebral lipid accumulation in chanarin-dorfman syndrome. Molecular Genetics and Metabolism. 2015 Jan 1;114(1):51-54. https://doi.org/10.1016/j.ymgme.2014.10.016
Huigen, Marleen C D G ; van der Graaf, Marinette ; Morava-Kozicz, Eva ; Dassel, A. Carin M ; van Steensel, Maurice A M ; Seyger, Marieke M B ; Wevers, Ron A. ; Willemsen, Michèl A. / Cerebral lipid accumulation in chanarin-dorfman syndrome. In: Molecular Genetics and Metabolism. 2015 ; Vol. 114, No. 1. pp. 51-54.
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