Congenital Limb Anomaly as a New Presentation of Arthrogryposis-Renal Problems-Cholestasis (ARC) Syndrome in an Iranian Infant: A Case Report

Abstract

Background: Arthrogryposis-Renal Problems-Cholestasis (ARC) syndrome is a rare autosomal recessive disease mostly presenting with arthrogryposis, renal problems and cholestasis. We present the first report of ARC syndrome in Iran manifested. Case Report: A 4-month-old male infant was admitted in our hospital with jaundice, poor feeding, tachypnea and lethargy. He has a history of congenital limb anomaly in his feet and jaundice on fifth day of birth. Laboratory and imaging studies revealed renal tubular acidosis, nephrocalcinosis and cholestasis. Despite antibiotic therapy, he died at the third day of hospitalization due to sepsis of pseudomonas aeroginosa and Escherichia coli co-infection and upper gastrointestinal bleeding secondary to coagulopathy of liver failure. Conclusion: ARC syndrome has various and rare clinical manifestations such as lower limb congenital anomaly, hypothyroidism, liver failure and nephrocalcinosis. [GMJ. 2015;4(3):117-21]