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306 ARC SYNDROME: A RARE FORM OF ARTHROGRYPOSIS WITH MULTISYSTEM INVOLVEMENT.
  1. T. H. Cushing1,
  2. K. Abe2,
  3. L. Hudgins1
  1. 1Division of Medical Genetics, Department of Pediatrics, Stanford University Medical School, Palo Alto, CA
  2. 2Department of Neurology, Stanford University Medical School, Palo Alto, CA.

Abstract

ARC syndrome is a rare, autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction, and neonatal cholestatic jaundice, which has been reported mainly in consanguineous families of Pakistani and Middle Eastern extraction. We present a 6-month-old male of Vietnamese extraction with ARC syndrome and a review of the literature. The patient initially presented with failure to thrive, contractures of the lower extremities bilaterally, and dry skin. Hypothyroidism had been noted on the newborn screen. Laboratory studies revealed giant platelets on a peripheral blood smear and a normal high-resolution chromosome study. Conjugated hyperbilirubinemia and renal tubular dysfunction were also identified, which prompted the diagnosis of ARC syndrome. The literature contains less than 100 ARC patients reported worldwide since the first report by Lutz-Richner and Landolt in 1973. Consistent findings include arthrogryposis of variable severity, renal dysfunction consisting of renal tubular acidosis and occasional nephrocalcinosis, and cholestatic liver disease. Less frequently reported features include ichthyosis, endocrine abnormalities, including hypothyroidism, and abnormal platelets, as demonstrated in our patient. Failure to thrive is an almost universal finding. Prognosis is poor, with most patients dying within the first year and the oldest reported patient surviving to 3 years. This diagnosis should be considered in a patient with arthrogryposis and multisystem involvement.

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