Classical Maple Syrup Urine Disease successfully treated with living donor liver transplantation

Abstract

Maple syrup urine disease (MSUD) is a disease that causes ketoacid accumulation in body. Diffusion-weighted imaging (DWI) is an important imaging modality for the diagnosis. Two children were diagnosed with MSUD at the neonatal period. They had uncontrolled ketosis and epileptic seizures although they were in compliance with their medical nutrition. Their DWIs were similar and showed high signal intensity localized within the myelinated white matter areas. Both of the patients were treated with living donor liver transplantation. The patients with classic form of MSUD are normal at birth. If the disease is not diagnosed and treated early, it can lead to serious neurological complications. Most researchers conclude that, the best choice for detecting MSUD encephalopathy in newborns is DWI. The traditional treatment of MSUD had been a protein-restricted diet until the liver transplantation became an alternative and better option for the cure of the patients..