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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Fig. 2

Brain MRI scans from families CIE17, CIE21 and CIE12. a-c MRIs of case CIE17-A1 (MFSD8 mutation) at 3 years. a Midline Sagittal T2-weighted image demonstrating enlarged cerebellar folia (arrow head) and thin corpus callosum. Ventricular system dilatation (star) is visible on coronal T1 image (b). d-f MRIs of patient CIE-21-A1 (KIF1A mutation) at 5 years showing cerebellar atrophy (arrowhead) on midline sagittal T2 (d), coronal T1 (e) and axial T1 (f) images. g-i MRIs of patient CIE12-A2 (MOCS2 mutation) with evidence of cerebellar vermis atrophy (arrowhead) on sagittal T1 image (g) and Right frontal arachnoid cyst (red arrow) visible on axial T2 scan (h)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172