Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome and platelet's abnormalities: about two cases

Abstract

Introduction: ARC syndrome (arthrogryposis-renal dysfunction-cholestasis) is a rare lethal multisystemic autosomal recessive disease due to a mutation in the VP33B gene on chromosome 15q26.1. Cases presentation: the authors reported two newborns of Tunisian consanguineous parents, who presented the three characteristic features of ARC syndrome. Their blood smear showed large and pale platelets which is characteristic in this syndrome. The two children were dead respectively at the age of 40 days and 2.5 months because of sepsis. Conclusion: the presence of agranular and large platelets in newborns suffering from cholestasis, proximal tubulopathy and orthopedic problems should be considered as an important diagnosis criteria.