Unusual cause of cerebral calcifications in an 8‐year‐old girl

Abstract

Key Clinical Message Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis. Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine–glyoxylate aminotransferase (AGT) resulting in overproduction of calcium oxalates. In its later stage, a systemic deposit of calcium oxalates is observed. We present the case of an 8‐year‐old girl with exceptional neurological involvement secondary to this disease.

Keywords

• alanine–glyoxylate aminotransferase
• children
• end‐stage renal disease
• Nephrocalcinosis
• nephrolithiasis