Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5

ÇAKIR M., Bruno C., CANSU A., ÇOBANOĞLU Ü., ERDURAN E.

ACTA PAEDIATRICA, cilt.99, sa.10, ss.1592-1594, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 99 Sayı: 10
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1111/j.1651-2227.2010.01869.x
  • Dergi Adı: ACTA PAEDIATRICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1592-1594
  • Anahtar Kelimeler: Chanarin-Dorfman syndrome, Fatty liver disease, Infancy, Liver cirrhosis, ADIPOSE TRIGLYCERIDE LIPASE, HORMONE-SENSITIVE LIPASE, METABOLISM, LIPOLYSIS, DISORDER, TISSUE
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease.