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MRI findings in classical Zellweger syndrome

MRI imaging from a critically ill neonate who presented with clinical and electrographic seizures and respiratory failure within 24 hours of life and was subsequently diagnosed with Zellweger syndrome, which was initially identified on newborn metabolic screen for ALD prior to return of any diagnostic testing. (A-C) Axial T2-weighted Propeller magnetic resonance imaging at multiple cerebral levels demonstrates leukodystrophic changes typical of Zellweger disease (black arrows) and one of several bilateral caudothalamic groove cysts (B, large black arrowhead) identified in this individual. (D-F) Sagittal T2 SSFSE magnetic resonance imaging of the same neonate demonstrates multiple bilateral caudothalamic groove cysts (white arrowheads). (Contributed by Dr. Kimberly Chapman.)

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  • Infantile Refsum disease