Ahmet SIĞIRCI, Sezai YILMAZ, Sait Murat DOĞAN, Güleç Mert DOĞAN, Gökalp OKUT

Classical Maple Syrup Urine Disease successfully treatedwith living donor liver transplantation

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

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