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AJNR - American Journal of Neuroradiology

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Predominant Cerebellar Volume Loss as a Neuroradiologic Feature of Pediatric Respiratory Chain Defects

Fernando Scaglia^a,c, Lee-Jun C. Wong^a, Georgirene D. Vladutiu^d and Jill V. Hunter^b

^a Departments of Molecular and Human Genetics, Houston TX
^b Department of Radiology, Houston TX
^c Baylor College of Medicine, and the Texas Child Hospital, Houston TX
^d Department of Pediatrics, State University of New York at Buffalo, Buffalo, NY

View larger version (62K): [in a new window]   FIG 1. Sagittal T1-weighted midline (A) and coronal (B) T1-weighted MR images through the posterior fossa show small cerebellar hemispheres and pontine hypoplasia with prominent cerebellar folia.

View larger version (71K): [in a new window]   FIG 2. A, Sagittal T1-weighted MR imaging demonstrates marked cerebellar volume loss with good preservation of the pons. B, Coronal T2-weighted sequence confirms cerebellar but not cerebral atrophy.

View larger version (50K): [in a new window]   FIG 3. Sagittal midline T1-weighted (A) and coronal fluid-attenuated (B) inversion recovery (C) images demonstrate evidence of progressive cerebellar atrophy when compared with interval sagittal T1-weighted midline image. Note evidence of pontine involvement with T1-weighted hypointensity returned from a pons diminished in size.