Arthrogryposis–Renal dysfunction–Cholestasis (ARC) Syndrome–––A case report

Dr.R. Ganesh; Dr.Ramya Uppuluri; Dr.Lalitha Janakiraman; Dr.Kalpana Gowrishankar; Dr.Malathi Sathiyasekaran

Volume : V, Issue : III, March - 2015

Arthrogryposis–Renal dysfunction–Cholestasis (ARC) Syndrome–––A case report

Dr. R. Ganesh, Dr. Ramya Uppuluri, Dr. Lalitha Janakiraman, Dr. Kalpana Gowrishankar, Dr. Malathi Sathiyasekaran

Abstract :

Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder. Failure to thrive, icthyosis, dysmorphism, recurrent infections, platelet disorders, deafness, absent corpsus callosum and neurogenic muscular atrophy are some of the features reported in this spectrum of ARC syndrome. Majority of children die within the first year of life and survivors present with severe developmental delay. Germ line mutations in VPS33B gene on chromosome 15q26.1 is the most common defect and identification of this helps in prenatal diagnosis. We report a 3 month female infant with clinico laboratory features diagnostic of ARC syndrome.