J Korean Pediatr Soc.  1996 Jan;39(1):126-130.

A Case of Neonatal Cholestasis with Arthrogryposis Multiplex Congenita and Renal Tubular Insufficiency(ARC Syndrome)

• Rhee HS
• Kim SY
• Baik NS
• Ha IS
• Seo JK

Abstract

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.

Keyword

ARC syndrome; Arthrogryposis multiplex congenita; Cholestasis; Renal tubular insufficiency

MeSH Terms

Acidosis
Acidosis, Renal Tubular
Arthrogryposis*
Biopsy
Child
Cholestasis*
Contracture
Ear
Failure to Thrive
Giant Cells
Hepatocytes
Humans
Hyperbilirubinemia
Infant, Newborn
Joints
Kidney
Lethargy
Liver
Male
Nephrocalcinosis
Palate
Proteinuria
Wills