Arthrogryposis, Renal Dysfunction, Cholestasis Syndrome with Scalp Hypotrichosis

Abstract

Arthrogryposis, renal dysfunction, cholestasis syndrome is an inherited disorder which involves multiple organs, with presentation evolving along the course of the disease. Two month old female child presented with three cardinal features, arthrogryposis, renal tubular acidosis and cholestasis, along with failure to thrive, giant platelets and paucity of bile ducts on histopathology of liver. Our child also had choroidal sclerosis and scalp hypotrichosis with seborrheic dermatitis. We are reporting this case to focus on wide range of associated manifestations, early detection, optimum management and genetic counselling in view poor prognosis.