Journal of the Korean Pediatric Society 1996;39(1):126-130.
Published online January 15, 1996.
A Case of Neonatal Cholestasis with Arthrogryposis Multiplex Congenita and Renal Tubular Insufficiency(ARC Syndrome)
Hi Soo Rhee, Soon Young Kim, Nam Sun Baik, Il Soo Ha, Jeong Kee Seo
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
다발성 관절구축과 신세뇨관 부전이 동반된 신생아 담즙정체(ARC 증후군)1례
이희수, 김순영, 백남선, 하일수, 서정기
서울대학교 의과대학 소아과학교실
We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal tubular acidosis, glucosuria, aminoaciduria, and proteinuria. Liver biopsy revealed intracellular and canalicular cholestasis, ballooning degeneration and giant cell formation of hepatocyte. Kidney sonography revealed medullary nephrocalcinosis. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. Until now, 13 cases were reported worldwide. Except one case, all children died in infancy. Autosomal recessive inheritance is the most likely mode of transmission. We have experienced a case of ARC syndrome in a male neonate with signs and symptoms of lethargy, poor oral intake, direct hyperbilirubinemia, acidosis, and multiple joint contracture.
Key Words: ARC syndrome, Arthrogryposis multiplex congenita, Cholestasis, Renal tubular insufficiency

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