ARC syndrome: A rare cause of infantile cholestasis

Abstract

A 65-day-old female infant, born to a third-degree consanguineously married couple, was brought to us with neonatal cholestasis and technetium-99 m hepatobiliary iminodiacetic acid scan reporting nonvisualization of the tracer activity in the intestine after 24 h. The neonate had ichthyosis and mild flexion contractures at elbows and knees. Ultrasonography and magnetic resonance cholangiopancreatography did not reveal any evidence of biliary atresia. Liver biopsy showed preserved liver and portal triad architecture with sinusoidal dilatation, giant cell formation, and biliary stasis. The neonate had an episode of enterocolitis complicated by acute kidney injury with persistent renal tubular dysfunction on recovery. Genetic testing revealed a homozygous pathogenic variant c. 201C > A (p. Tyr67Ter) in VPS33B. A diagnosis of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome was made, and the neonate managed conservatively with counseling of parents regarding poor prognosis. The neonate died of an intercurrent illness at the age of 7 months. This is possibly the fourth case of ARC syndrome reported from India.