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. Author manuscript; available in PMC: 2012 Jul 1.
Published in final edited form as: Pediatr Neurol. 2011 Jul;45(1):57–59. doi: 10.1016/j.pediatrneurol.2011.02.003

Figure 1. MRI characteristics in 4 female patients with PDHA1 deficiency.

Figure 1

Columns show patients 1, 2, 3, and 4 imaged at 4 months, 5 months, 1 day, and 11 months, respectively. Rows: A, sagittal midline T1-weighted images; B, axial T2-weighted images at the level of lateral ventricles; C, coronal T2-weighted images through the hippocampi.

Note the incomplete corpus callosum in all patients (Row A, short white arrows). All patients had asymmetrical ventriculomegaly (Row B, stars) with a normal 4th ventricle (Row A, stars). A small pons (Row A, long white arrows) can be seen. Ventricular septations were seen in 3/4 patients (row B, patients 1,2 and 4, black arrows) or parenchymal cysts in 1/4 patients (row B, patient 3, black arrow). Patients 1,2 and 4 displayed hyporotated hippocampi (row C, arrows).