RESUMEN
We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and treatment was initiated. A follow-up brain MR imaging and (1)H-MR spectroscopy study revealed resolution of white matter lesions and disappearance of Gal-ol peaks.
Asunto(s)
Química Encefálica , Galactitol/análisis , Galactosemias/diagnóstico , Espectroscopía de Resonancia Magnética , Encéfalo/patología , Femenino , Galactitol/orina , Galactosemias/dietoterapia , Humanos , Lactante , Imagen por Resonancia MagnéticaRESUMEN
We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.