| Autor: |
Ferraz-Filho, José Roberto Lopes, Floriano, Valdeci Hélio, Quirici, Marcelo Bianco, de Albuquerque, Regina Pires, Souza, António Soares |
| Zdroj: |
Arquivos de Neuro-Psiquiatria; set2009, Vol. 67 Issue 3, p719-723, 5p, 3 Black and White Photographs |
| Abstrakt: |
The article describes the case of a full-term male infant who was diagnosed with maple syrup urine disease (MSUD) or leucinosis accompanied with brain white matter lesions. Chromatographic analyses revealed elevation in branched-chain amino acids in the plasma, leucine and isoleucine. Myelinating white matter lesions, as well as hypersignal and hyposignal lesions were shown in the magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) results. The genetic basis of MSUD is discussed. |
| Databáze: |
Supplemental Index |
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