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

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.