Dorfman-Chanarin syndrome

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Classification according to ICD-10
E75.5 Other disorders of lipid storage
ICD-10 online (WHO version 2019)

The neutral lipid storage disease or Dorfman Chanarin's disease is a very rare inborn metabolic disorder characterized by abnormal storage of triglycerides and is one of the storage diseases . The storage takes place mainly in the leukocytes , the muscles , the liver and in the fibroblasts and is associated with ichthyosis . The first description was in 1974 by Dorfman . Synonyms are: Chanarin-Dorfman syndrome ; Neutral fat storage disease ; Lipidosis with triglyceride storage disease , myopathy with neutral fat storage .

The disease is inherited as an autosomal recessive trait, and the incidence is estimated to be less than 1 in 1 million. So far, several mutations in the ABHD5 gene have been found to be causative.

clinic

In addition to the birth of evolving itself generalized ichthyosis one there are hepatosplenomegaly , myopia , nystagmus , ataxia until later in adulthood.

literature

  • O. Ersoy, C. Alkım, MD Onuk, H. Demirsoy, D. Argon: A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report. In: International journal of hepatology. Volume 2011, 2011, pp. 341372, ISSN  2090-3456 . doi : 10.4061 / 2011/341372 . PMID 21994851 . PMC 3170759 (free full text).

Individual evidence

  1. ^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
  2. ↑ a b Orphanet
  3. ↑ ML Dorfman, C. Hershko, S. Eisenberg, F. Sagher: Ichthyosiform dermatosis with systemic lipidosis. In: Archives of Dermatology . Volume 110, Number 2, August 1974, pp. 261-266, ISSN  0003-987X . PMID 4277517 .
  4. ↑ a b Genodermatoses
  5. ↑ C. Lefèvre, F. Jobard, F. Caux, B. Bouadjar, A. Karaduman, R. Heilig, H. Lakhdar, A. Wollenberg, JL Verret, J. Weissenbach, M. Ozgüc, M. Lathrop, JF Prud 'homme, J. Fischer: Mutations in CGI-58, the gene encoding a new protein of the esterase / lipase / thioesterase subfamily, in Chanarin-Dorfman syndrome. In: American Journal of Human Genetics . Volume 69, Number 5, November 2001, pp. 1002-1012, ISSN  0002-9297 . doi : 10.1086 / 324121 . PMID 11590543 . PMC 1274347 (free full text).

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