Maple syrup urine disease: diffusion-weighted MRI findings during acute metabolic encephalopathic crisis.
Jpn J Radiol
; 30(6): 522-5, 2012 Jul.
Article
en En
| MEDLINE
| ID: mdl-22476847
ABSTRACT
Maple syrup urine disease (MSUD) is caused by a genetic defect of branched-chain amino acids, which include leucine, isoleucine and valine. We report diffusion-weighted imaging (DWI) findings in a newborn child with MSUD who presented with acute metabolic encephalopathic crisis. DWI (b = 1,000 s/mm(2)) showed high signal localized within the myelinated white matter (WM) areas including the cerebellar white matter, pons, bulbus, cerebral peduncles, lentiform nucleus, posterior limbs of the internal capsules, corona radiata and bilateral perirolandic cortex. The apparent diffusion coefficient values of these regions were markedly low in the affected areas. The presence of these findings was considered cytotoxic or intramyelinic edema evidenced by restricted water diffusion. In conclusion, our findings suggest that during the acute phase and early encephalopathic crisis stage of MSUD, DWI can demonstrate the involvement of myelinated WM in newborns.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Imagen de Difusión por Resonancia Magnética
/
Enfermedad de la Orina de Jarabe de Arce
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Jpn J Radiol
Asunto de la revista:
DIAGNOSTICO POR IMAGEM
/
RADIOLOGIA
/
RADIOTERAPIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Turquía