The Turkish Journal of Pediatrics 2005 , Vol 47 , Num 1
Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings
1Departments of Pediatrics, Osmangazi University Faculty of Medicine, Eskişehir, Turkey
2Pathology, Osmangazi University Faculty of Medicine, Eskişehir, Turkey
Tekin N, Aydoğdu SD, Dinleyici EC, Bör Ö, Bildirici K, Akşit A. Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings. Turk J Pediatr 2005; 47: 67-70.

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. Keywords : ARC, arthrogryposis multiplex congenita, cholestasis, renal tubular dysfunction

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