The Turkish Journal of Pediatrics 2005; 47: 67-70 Case Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings

We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction completed the clinical picture. Consanguinity and affected membership are the other typical components of this rare disorder, and possibility of autosomal recessive transmission was considered. A broad spectrum of histopathological abnormalities have been described in the liver and kidney. In this report, we describe two male siblings with ARC syndrome who had cholestatic jaundice, arthrogryposis multiplex congenital-like joint contractures and renal involvement with additional clinical features. Clinical and pathological aspects of the syndrome are discussed and compared with the other cases in the literature. Key words: ARC, arthrogryposis multiplex congenita, cholestasis, renal tubular dysfunction. Association of the arthrogryposis multiplex congenital, cholestasis and renal tubular dysfunction was first reported in 19731 and described as a new clinicopathologic entity by Nezelof et al2. in 1979. It is a fatal, progressive disorder that has autosomal recessive inheritance and has been termed ARC syndrome3,4. In most cases, clinical features are accompanied by histopathological abnormalities of the liver and kidney4. We present the first family report with the typical clinical picture that was diagnosed in Turkey, and compare our cases with other cases that have been published to date