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AJNR - American Journal of Neuroradiology

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Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features

Cecilia Parazzini^a, Saverio Arena^c, Lucrezia Marchetti^b, Francesca Menni^b, Mirella Filocamo^d, Frans W. Verheijen^e, Grazia M.S. Mancini^e, Fabio Triulzi^a and Rossella Parini^b

^a Departments of Radiology and Neuroradiology, Azienda Ospedaliera Istituti Clinici di Perfezionamento, Milano, Italy
^b Department of Pediatrics, Azienda Ospedaliera Istituti Clinici di Perfezionamento, Milano, Italy
^c Department of Perinatal Pathology, Azienda Ospedaliera Fatebenefratelli, Milano, Italy
^d Laboratory for Pre- and Postnatal Diagnoses, Instituto Giannina Gaslini, Genova, Italy
^e Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands

View larger version (64K): [in a new window]   FIG 1. Sonographic evaluation. A, Sagittal view sonogram obtained at 2 days of life. B, Sagittal view sonogram obtained at 132 days of life. A progressive increase of parenchymal echogenicity is shown.

View larger version (81K): [in a new window]   FIG 2. MR imaging study. A, Axial view T2-weighted MR image. Periventricular white matter shows symmetric hypointensity on the T2-weighted sequence. B, Axial view T1-weighted MR image. Periventricular white matter shows hyperintensity on the T1-weighted sequence. C, T1-weighted MR image shows thinning of the optic chiasm.