Polyradiculoneuropathy in an adult with primary hyperoxaluria type 1

From the age of 31 a patient began to suffer from recurrent calcium oxalate urolithiasis. Liver biopsy showed a decrease in catalytic activity of the hepatic peroxisomal enzyme alanine: glyoxilate aminotransferase (AGT), whic h was mistargeted from peroxisomes to mitochondria. The genetic analysis re vealed a mutation of the AGT gene. At age 47 he developed end-stage renal f ailure and underwent hemodialysis. After 12 months of hemodialysis he prese nted a rapidly declining clinical condition, a decrease of the residual ren al function, a livedo reticularis with painful of extremities, and shortly thereafter a general weakness, which predominated on-lower limbs. Apart fro m renal failure, routine biological examination and CSF were normal Nerve c onduction studies and electromyography supported the diagnosis of polyradic uloneuropathy. Pathological studies revealed mixed demyelinating-axonal les ions and deposits of calcium oxalate crystals within the media and the inti ma of epineural arterioles. A combined liver-kidney transplant was rapidly performed. The patient's condition improved in a few months and motor signs completely disappeared.