QJM: An International Journal of MedicineTitle: "Imaging of Primary hyperoxaluria with classical renal and skeletal changes"

Primary hyperoxaluria (PH) is a rare metabolic disorder with autosomal recessive inheritance pattern which is due to deficiency of alanine-glyoxylate aminotransferase enzyme. It causes defective glyoxylate metabolism in liver which in turn leads to excessive oxalate production and deposition. Supersaturation of oxalic acid in urine (>45 mg/day) is known as hyperoxaluria which causes nephrolithiasis, cortical nephrocalcinosis and renal insufficiency. Secondary hyperoxaluria is due to over ingestion of oxalic acids or its precursors or can be due to its reduced excretion. Deposition of these highly insoluble calcium oxalate crystals (serum oxalate >30.0 mmol/L) in extra-renal tissues is known as systemic oxalosis. Here we present a rare case of infantile presentation, where nephrocalcinosis sets in at a very early age without nephrolithiasis, leading to ESRD in very early childhood and extra renal deposition in skeletal system.