Figure 2 | Scientific Reports

Figure 2

From: Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

Figure 2

Brain MRI of all three patients. Patient 1 underwent a brain MRI at 3 years and 6 months of age, and showed micropolygyria, septum pellucidum absence, corpus callosum dysplasia, cerebellum hypoplasia, and cerebellar cysts with abnormal white matter signals in T1W and T2W. A brain MRI of patient 1 also showed right microphthalmus, amotio retinae, and left eye irregular shape. Patient 2 underwent a brain MRI at 8 months of age and demonstrated frontal lobe micropolygyria, increased white matter signals in T2W and fluid attenuated inversion recovery (FLAIR), and dysplasia of the brainstem and cerebellum. Patient 3 underwent a brain MRI at 4 months of age, and showed frontal lobe micropolygyria, abnormal white-matter signals in the bilateral frontal region, dysplasia of the brainstem and cerebellum, and cerebellar cysts with abnormal white matter signals in T1W, T2W and FLAIR.

Back to article page