2024/12/31 by Kmiha, S., Ben Ameur, S., Chaari, M. +4
paper · doi:10.71566/pist-rmp-194660
Introduction: ARC syndrome (arthrogryposis-renal dysfunction-cholestasis) is a rare letal 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 pre- sented the three characteristic features of ARC syndrome. Their blood smear showed large and pale plate- lets 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.