A case with full clinical manifestations of Dorfman-Chanarin syndrome


Cuhaci F. N., Mutluay R., Aksakal B. A., ERTEN Y.

CENTRAL EUROPEAN JOURNAL OF MEDICINE, cilt.2, sa.1, ss.116-121, 2007 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 2 Sayı: 1
  • Basım Tarihi: 2007
  • Doi Numarası: 10.2478/s11536-007-0010-x
  • Dergi Adı: CENTRAL EUROPEAN JOURNAL OF MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database
  • Sayfa Sayıları: ss.116-121
  • Anahtar Kelimeler: Dorfman-Chanarin Syndrome, ichthyosis, leucocytes vacuoles, LIPID STORAGE
  • Gazi Üniversitesi Adresli: Evet

Özet

Dorfman-Chanarin syndrome (DCS), is a rare, autosomal recessive disorder associated with lipid metabolism. It is characterized by ichthyosiform nonbullous erythroderma, lipid vacuoles in peripheral leukocytes and variable involvement of organs. We report a Turkish man with the complete syndrome, who described family history of ichthyosis. To best of our knowledge this is the sixth case from Turkish origin to date. In addition to congenital ichthyosis he had also strabismus, horizantal nystagmus, bilateral neurosensory hearing loss, hepatomegaly and splenomegaly. Liver biopsy revealed hidrophic degeneration in hepatocytes, steatosis, enlargement and inflammation in portal areas and portal central fibrosis, consistent with cirrhosis. Write stained peripheral blood smear examination revealed lipid vacuoles in all of the neutrophils consistent with Jordan's anomaly. We think that, it is essential to evaluate the peripheral blood smear of the patients with ichthyosis and also patients with DCS should be informed and warned about the results of consanquinous marriage. (C) Versita Warsaw and Springer-Verlag Berlin Heidelberg. All rights reserved.